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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: 7-100855586-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100855586&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100855586,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_020246.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "NM_020246.4",
"protein_id": "NP_064631.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000354161.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020246.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000354161.8",
"protein_id": "ENSP00000275730.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_020246.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354161.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "ENST00000415287.5",
"protein_id": "ENSP00000413796.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000971215.1",
"protein_id": "ENSP00000641274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 943,
"cds_start": null,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "NM_001363493.2",
"protein_id": "NP_001350422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363493.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000856610.1",
"protein_id": "ENSP00000526669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000856611.1",
"protein_id": "ENSP00000526670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
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"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000856618.1",
"protein_id": "ENSP00000526677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000856627.1",
"protein_id": "ENSP00000526686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856627.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000856628.1",
"protein_id": "ENSP00000526687.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 914,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000856628.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.317-120T>A",
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"transcript": "ENST00000938684.1",
"protein_id": "ENSP00000608743.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.317-120T>A",
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},
{
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],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "SLC12A9",
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},
{
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],
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"gene_symbol": "SLC12A9",
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},
{
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],
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.370+778T>A",
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"transcript": "ENST00000856619.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.317-120T>A",
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"transcript": "ENST00000971217.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.182-120T>A",
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"transcript": "ENST00000856630.1",
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},
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],
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},
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],
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"gene_symbol": "SLC12A9",
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "ENST00000856622.1",
"protein_id": "ENSP00000526681.1",
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"feature": "ENST00000856622.1"
},
{
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