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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: 7-107782802-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107782802&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107782802,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000111.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "NM_000111.3",
"protein_id": "NP_000102.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "ENST00000340010.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000111.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000340010.10",
"protein_id": "ENSP00000345873.5",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "NM_000111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340010.10"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852261.1",
"protein_id": "ENSP00000522320.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 771,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852261.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852262.1",
"protein_id": "ENSP00000522321.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 769,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852262.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852250.1",
"protein_id": "ENSP00000522309.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852250.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852251.1",
"protein_id": "ENSP00000522310.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852251.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852254.1",
"protein_id": "ENSP00000522313.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852254.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852257.1",
"protein_id": "ENSP00000522316.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852257.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852263.1",
"protein_id": "ENSP00000522322.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852263.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852270.1",
"protein_id": "ENSP00000522329.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 764,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852270.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1303C>A",
"hgvs_p": "p.Gln435Lys",
"transcript": "ENST00000852259.1",
"protein_id": "ENSP00000522318.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 763,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852259.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1300C>A",
"hgvs_p": "p.Gln434Lys",
"transcript": "ENST00000852264.1",
"protein_id": "ENSP00000522323.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 762,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852264.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852256.1",
"protein_id": "ENSP00000522315.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 758,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852256.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"transcript": "ENST00000852267.1",
"protein_id": "ENSP00000522326.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 747,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852267.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1252C>A",
"hgvs_p": "p.Gln418Lys",
"transcript": "ENST00000852258.1",
"protein_id": "ENSP00000522317.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 746,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852258.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852269.1",
"protein_id": "ENSP00000522328.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 742,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852269.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852252.1",
"protein_id": "ENSP00000522311.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 732,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852252.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"transcript": "ENST00000852265.1",
"protein_id": "ENSP00000522324.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 732,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852265.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1195C>A",
"hgvs_p": "p.Gln399Lys",
"transcript": "ENST00000852253.1",
"protein_id": "ENSP00000522312.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 727,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852253.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Gln398Lys",
"transcript": "ENST00000852268.1",
"protein_id": "ENSP00000522327.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 726,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852268.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Gln385Lys",
"transcript": "ENST00000852255.1",
"protein_id": "ENSP00000522314.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 713,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852255.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A3",
"gene_hgnc_id": 3018,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Gln381Lys",
"transcript": "ENST00000852271.1",
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],
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"alphamissense_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"PP3_Moderate"
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}