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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: 4-75491177-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75491177&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75491177,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_015436.4",
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.536+434T>A",
"hgvs_p": null,
"transcript": "NM_015436.4",
"protein_id": "NP_056251.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324439.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015436.4"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.536+434T>A",
"hgvs_p": null,
"transcript": "ENST00000324439.10",
"protein_id": "ENSP00000321239.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015436.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324439.10"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.510-476T>A",
"hgvs_p": null,
"transcript": "ENST00000513257.5",
"protein_id": "ENSP00000421084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513257.5"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.416+434T>A",
"hgvs_p": null,
"transcript": "ENST00000380840.6",
"protein_id": "ENSP00000370220.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380840.6"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.*236+406T>A",
"hgvs_p": null,
"transcript": "ENST00000504085.5",
"protein_id": "ENSP00000421958.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000504085.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.536+434T>A",
"hgvs_p": null,
"transcript": "ENST00000505105.5",
"protein_id": "ENSP00000424631.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000505105.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.462+434T>A",
"hgvs_p": null,
"transcript": "ENST00000512567.5",
"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": "ENST00000512567.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.578+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906842.1",
"protein_id": "ENSP00000576901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906842.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.545+434T>A",
"hgvs_p": null,
"transcript": "ENST00000915594.1",
"protein_id": "ENSP00000585653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915594.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.527+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906838.1",
"protein_id": "ENSP00000576897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906838.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.536+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906843.1",
"protein_id": "ENSP00000576902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
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"cds_length": 777,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906843.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.512+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906839.1",
"protein_id": "ENSP00000576898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906839.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.510-476T>A",
"hgvs_p": null,
"transcript": "NM_001009922.3",
"protein_id": "NP_001009922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
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"cds_length": 759,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009922.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.512+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906844.1",
"protein_id": "ENSP00000576903.1",
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"aa_start": null,
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"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": "ENST00000906844.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.510-485T>A",
"hgvs_p": null,
"transcript": "ENST00000906840.1",
"protein_id": "ENSP00000576899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
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"cds_length": 750,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906840.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.491+434T>A",
"hgvs_p": null,
"transcript": "ENST00000906845.1",
"protein_id": "ENSP00000576904.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906845.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.470+434T>A",
"hgvs_p": null,
"transcript": "NM_001278538.2",
"protein_id": "NP_001265467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
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"cds_length": 720,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278538.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.470+434T>A",
"hgvs_p": null,
"transcript": "ENST00000512706.5",
"protein_id": "ENSP00000423976.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"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": "ENST00000512706.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.416+434T>A",
"hgvs_p": null,
"transcript": "NM_001278536.2",
"protein_id": "NP_001265465.1",
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"biotype": "protein_coding",
"feature": "NM_001278536.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.390-476T>A",
"hgvs_p": null,
"transcript": "NM_001278537.2",
"protein_id": "NP_001265466.1",
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"biotype": "protein_coding",
"feature": "NM_001278537.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.390-476T>A",
"hgvs_p": null,
"transcript": "ENST00000507014.1",
"protein_id": "ENSP00000424472.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507014.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.405+2924T>A",
"hgvs_p": null,
"transcript": "ENST00000906841.1",
"protein_id": "ENSP00000576900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906841.1"
},
{
"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": 9,
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}
],
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}