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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: 7-77377400-C-CAAAAAAAAAAAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77377400&ref=C&alt=CAAAAAAAAAAAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 77377400,
"ref": "C",
"alt": "CAAAAAAAAAAAAAAAAA",
"effect": "intron_variant",
"transcript": "ENST00000257626.12",
"consequences": [
{
"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": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_017439.4",
"protein_id": "NP_059135.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": "ENST00000257626.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-11_577-10insTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000257626.12",
"protein_id": "ENSP00000257626.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": "NM_017439.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350896.2",
"protein_id": "NP_001337825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350897.2",
"protein_id": "NP_001337826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.520-27_520-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350898.2",
"protein_id": "NP_001337827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350899.2",
"protein_id": "NP_001337828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350900.2",
"protein_id": "NP_001337829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001350901.2",
"protein_id": "NP_001337830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "n.468-11_468-10insTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000334003.11",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "n.605-27_605-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NR_146937.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "n.605-27_605-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NR_146938.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3168,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011516325.3",
"protein_id": "XP_011514627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011516327.3",
"protein_id": "XP_011514629.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 8,
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"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420487.1",
"protein_id": "XP_047276443.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420488.1",
"protein_id": "XP_047276444.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 723,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.577-27_577-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420489.1",
"protein_id": "XP_047276445.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011516330.3",
"protein_id": "XP_011514632.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_017012346.2",
"protein_id": "XP_016867835.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
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"transcript": "XM_047420490.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
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"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420491.1",
"protein_id": "XP_047276447.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
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"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420492.1",
"protein_id": "XP_047276448.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.-69-27_-69-11dupTTTTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047420493.1",
"protein_id": "XP_047276449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
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}