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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: 7-65974934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65974934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 65974934,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000181.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "NM_000181.4",
"protein_id": "NP_000172.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 651,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304895.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000181.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "ENST00000304895.9",
"protein_id": "ENSP00000302728.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 651,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000181.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304895.9"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Lys378Lys",
"transcript": "ENST00000864783.1",
"protein_id": "ENSP00000534842.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 679,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864783.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Lys371Lys",
"transcript": "ENST00000864792.1",
"protein_id": "ENSP00000534851.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 661,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864792.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1077G>A",
"hgvs_p": "p.Lys359Lys",
"transcript": "ENST00000864788.1",
"protein_id": "ENSP00000534847.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 660,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864788.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "ENST00000912577.1",
"protein_id": "ENSP00000582636.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 658,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912577.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Lys349Lys",
"transcript": "ENST00000864780.1",
"protein_id": "ENSP00000534839.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 650,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864780.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "ENST00000864778.1",
"protein_id": "ENSP00000534837.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 640,
"cds_start": 1050,
"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": "ENST00000864778.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Lys333Lys",
"transcript": "ENST00000864798.1",
"protein_id": "ENSP00000534857.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 634,
"cds_start": 999,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864798.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.981G>A",
"hgvs_p": "p.Lys327Lys",
"transcript": "ENST00000864790.1",
"protein_id": "ENSP00000534849.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 628,
"cds_start": 981,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864790.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Lys324Lys",
"transcript": "ENST00000864786.1",
"protein_id": "ENSP00000534845.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 625,
"cds_start": 972,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864786.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "ENST00000864785.1",
"protein_id": "ENSP00000534844.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 612,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864785.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "ENST00000864781.1",
"protein_id": "ENSP00000534840.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 592,
"cds_start": 1050,
"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": "ENST00000864781.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Lys267Lys",
"transcript": "ENST00000864796.1",
"protein_id": "ENSP00000534855.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 568,
"cds_start": 801,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864796.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Lys249Lys",
"transcript": "ENST00000864793.1",
"protein_id": "ENSP00000534852.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 550,
"cds_start": 747,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864793.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.612G>A",
"hgvs_p": "p.Lys204Lys",
"transcript": "NM_001284290.2",
"protein_id": "NP_001271219.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 505,
"cds_start": 612,
"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": "NM_001284290.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.612G>A",
"hgvs_p": "p.Lys204Lys",
"transcript": "ENST00000421103.5",
"protein_id": "ENSP00000391390.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 505,
"cds_start": 612,
"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": "ENST00000421103.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Lys160Lys",
"transcript": "NM_001293104.2",
"protein_id": "NP_001280033.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 461,
"cds_start": 480,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293104.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Lys131Lys",
"transcript": "NM_001293105.2",
"protein_id": "NP_001280034.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 432,
"cds_start": 393,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293105.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Lys183Lys",
"transcript": "XM_047420286.1",
"protein_id": "XP_047276242.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 484,
"cds_start": 549,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420286.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Lys350Lys",
"transcript": "XM_047420287.1",
"protein_id": "XP_047276243.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 415,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420287.1"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.997-230G>A",
"hgvs_p": null,
"transcript": "ENST00000864777.1",
"protein_id": "ENSP00000534836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"phenotype_combined": "Mucopolysaccharidosis type 7",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}