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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: 13-19851747-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=19851747&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 19851747,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142684.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "NM_001142684.2",
"protein_id": "NP_001136156.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142684.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000337963.9",
"protein_id": "ENSP00000337034.4",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142684.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337963.9"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000382905.8",
"protein_id": "ENSP00000372361.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 382,
"cds_start": 434,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382905.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000382907.8",
"protein_id": "ENSP00000372364.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 208,
"cds_start": 434,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382907.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000382909.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000382909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "n.587G>A",
"hgvs_p": null,
"transcript": "ENST00000467542.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467542.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "n.587G>A",
"hgvs_p": null,
"transcript": "ENST00000495534.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495534.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000854552.1",
"protein_id": "ENSP00000524611.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854552.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000854554.1",
"protein_id": "ENSP00000524613.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854554.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000923234.1",
"protein_id": "ENSP00000593293.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923234.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000923235.1",
"protein_id": "ENSP00000593294.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923235.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000954241.1",
"protein_id": "ENSP00000624300.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954241.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000954242.1",
"protein_id": "ENSP00000624301.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954242.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000854551.1",
"protein_id": "ENSP00000524610.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 487,
"cds_start": 434,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854551.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "ENST00000854553.1",
"protein_id": "ENSP00000524612.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 487,
"cds_start": 434,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854553.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "NM_001039650.3",
"protein_id": "NP_001034739.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 382,
"cds_start": 434,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039650.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "NM_001039649.3",
"protein_id": "NP_001034738.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 208,
"cds_start": 434,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039649.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Glu",
"transcript": "XM_011535309.3",
"protein_id": "XP_011533611.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 696,
"cds_start": 515,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535309.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "XM_005266594.4",
"protein_id": "XP_005266651.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266594.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "XM_006719894.4",
"protein_id": "XP_006719957.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 669,
"cds_start": 434,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719894.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Glu",
"transcript": "XM_011535310.3",
"protein_id": "XP_011533612.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 514,
"cds_start": 515,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535310.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Gly145Glu",
"transcript": "XM_047430768.1",
"protein_id": "XP_047286724.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 487,
"cds_start": 434,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430768.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
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{
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{
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{
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{
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{
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},
{
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],
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"biotype": "retained_intron",
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],
"gene_symbol": "ZMYM5",
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"dbsnp": "rs760543043",
"frequency_reference_population": 0.000013190922,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02750605344772339,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.109,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001142684.2",
"gene_symbol": "ZMYM5",
"hgnc_id": 13029,
"effects": [
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],
"inheritance_mode": "AR",
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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
}