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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-73284155-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73284155&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73284155,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001005743.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "NM_001005743.2",
"protein_id": "NP_001005743.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555238.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005743.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000555238.6",
"protein_id": "ENSP00000451300.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005743.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555238.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "ENST00000557597.5",
"protein_id": "ENSP00000451117.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 640,
"cds_start": 842,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557597.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000356296.8",
"protein_id": "ENSP00000348644.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 603,
"cds_start": 875,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356296.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000555394.5",
"protein_id": "ENSP00000451625.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 603,
"cds_start": 875,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555394.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "ENST00000554546.5",
"protein_id": "ENSP00000452416.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 592,
"cds_start": 842,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554546.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148His",
"transcript": "ENST00000556772.5",
"protein_id": "ENSP00000451513.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 507,
"cds_start": 443,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.656-1650G>A",
"hgvs_p": null,
"transcript": "ENST00000560335.5",
"protein_id": "ENSP00000453209.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.623-1650G>A",
"hgvs_p": null,
"transcript": "ENST00000555738.6",
"protein_id": "ENSP00000452069.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555738.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.655+2955G>A",
"hgvs_p": null,
"transcript": "ENST00000559312.5",
"protein_id": "ENSP00000452888.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.622+2955G>A",
"hgvs_p": null,
"transcript": "ENST00000554521.6",
"protein_id": "ENSP00000450817.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554521.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000925296.1",
"protein_id": "ENSP00000595355.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 674,
"cds_start": 875,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925296.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "ENST00000863629.1",
"protein_id": "ENSP00000533688.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 663,
"cds_start": 842,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863629.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281His",
"transcript": "ENST00000863643.1",
"protein_id": "ENSP00000533702.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 663,
"cds_start": 842,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863643.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000355058.7",
"protein_id": "ENSP00000347169.3",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355058.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000863614.1",
"protein_id": "ENSP00000533673.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863614.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000863627.1",
"protein_id": "ENSP00000533686.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863627.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000863651.1",
"protein_id": "ENSP00000533710.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863651.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000863652.1",
"protein_id": "ENSP00000533711.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863652.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000863656.1",
"protein_id": "ENSP00000533715.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863656.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000925290.1",
"protein_id": "ENSP00000595349.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925290.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "ENST00000925293.1",
"protein_id": "ENSP00000595352.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 651,
"cds_start": 875,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925293.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
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{
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],
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},
{
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"biotype": "pseudogene",
"feature": "ENST00000553997.5"
},
{
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"protein_coding": false,
"strand": false,
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],
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"biotype": "retained_intron",
"feature": "ENST00000554014.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000557486.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"transcript": "ENST00000554394.5",
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{
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],
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"gene_symbol": "NUMB",
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"feature": "ENST00000555307.5"
},
{
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"strand": true,
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],
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"gene_symbol": "NUMB",
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"hgvs_c": "c.*96G>A",
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"transcript": "ENST00000555859.5",
"protein_id": "ENSP00000451326.1",
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"biotype": "protein_coding",
"feature": "ENST00000555859.5"
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],
"gene_symbol": "NUMB",
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"dbsnp": "rs1485074137",
"frequency_reference_population": 0.000005576298,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547244,
"gnomad_genomes_af": 0.00000657445,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9186328053474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.675,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.697,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001005743.2",
"gene_symbol": "NUMB",
"hgnc_id": 8060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}