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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: 4-55369693-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55369693&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 55369693,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000264228.9",
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.698-139T>C",
"hgvs_p": null,
"transcript": "NM_024592.5",
"protein_id": "NP_078868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "ENST00000264228.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.698-139T>C",
"hgvs_p": null,
"transcript": "ENST00000264228.9",
"protein_id": "ENSP00000264228.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "NM_024592.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "c.563-1981T>C",
"hgvs_p": null,
"transcript": "ENST00000679707.1",
"protein_id": "ENSP00000505713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2676,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.269-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000433175.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1617,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.364-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000510637.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.334A>G",
"hgvs_p": null,
"transcript": "ENST00000619912.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.563-139T>C",
"hgvs_p": null,
"transcript": "NM_001410732.1",
"protein_id": "NP_001397661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.563-139T>C",
"hgvs_p": null,
"transcript": "ENST00000679836.1",
"protein_id": "ENSP00000506601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "c.562+5422T>C",
"hgvs_p": null,
"transcript": "ENST00000680700.1",
"protein_id": "ENSP00000504926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.290-139T>C",
"hgvs_p": null,
"transcript": "ENST00000505210.1",
"protein_id": "ENSP00000424714.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": -4,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.572-139T>C",
"hgvs_p": null,
"transcript": "ENST00000514398.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 715,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.465-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000595103.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 674,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.676-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000595734.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 885,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.676-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000596289.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "SRD5A3-AS1",
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"hgvs_c": "n.581-2530A>G",
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"transcript": "ENST00000596312.5",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.568-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000598906.5",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.605-2530A>G",
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"transcript": "ENST00000608086.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.598-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000608265.5",
"protein_id": null,
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.567-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000608558.5",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SRD5A3-AS1",
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"hgvs_c": "n.674-2530A>G",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "SRD5A3-AS1",
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"hgvs_c": "n.573-2530A>G",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.441-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000609500.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.695-2530A>G",
"hgvs_p": null,
"transcript": "ENST00000609573.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"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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"canonical": false,
"protein_coding": false,
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"phenotype_combined": "not provided",
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}
],
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}