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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: 5-169588463-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=169588463&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 169588463,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001329639.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "NM_017785.5",
"protein_id": "NP_060255.3",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265295.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017785.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000265295.9",
"protein_id": "ENSP00000265295.4",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017785.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265295.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "n.47C>G",
"hgvs_p": null,
"transcript": "ENST00000507232.5",
"protein_id": "ENSP00000425357.1",
"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": "ENST00000507232.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "n.204C>G",
"hgvs_p": null,
"transcript": "ENST00000510751.5",
"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": "pseudogene",
"feature": "ENST00000510751.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "NM_001329639.2",
"protein_id": "NP_001316568.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 622,
"cds_start": 47,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329639.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "NM_001329640.2",
"protein_id": "NP_001316569.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 622,
"cds_start": 47,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329640.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "NM_001329641.2",
"protein_id": "NP_001316570.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329641.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925120.1",
"protein_id": "ENSP00000595179.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925120.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925125.1",
"protein_id": "ENSP00000595184.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925125.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000961466.1",
"protein_id": "ENSP00000631525.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 605,
"cds_start": 47,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961466.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925122.1",
"protein_id": "ENSP00000595181.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 603,
"cds_start": 47,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925122.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925123.1",
"protein_id": "ENSP00000595182.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 582,
"cds_start": 47,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925123.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925124.1",
"protein_id": "ENSP00000595183.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 572,
"cds_start": 47,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925124.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000925121.1",
"protein_id": "ENSP00000595180.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 558,
"cds_start": 47,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925121.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000513941.5",
"protein_id": "ENSP00000422352.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 229,
"cds_start": 47,
"cds_end": null,
"cds_length": 691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513941.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000513795.1",
"protein_id": "ENSP00000427510.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 157,
"cds_start": 47,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513795.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000508247.5",
"protein_id": "ENSP00000425922.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 148,
"cds_start": 47,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508247.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000515224.5",
"protein_id": "ENSP00000423687.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 87,
"cds_start": 47,
"cds_end": null,
"cds_length": 265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515224.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000506574.5",
"protein_id": "ENSP00000421598.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 85,
"cds_start": 47,
"cds_end": null,
"cds_length": 260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506574.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "ENST00000629457.2",
"protein_id": "ENSP00000486653.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 60,
"cds_start": 47,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629457.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_011534587.3",
"protein_id": "XP_011532889.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 622,
"cds_start": 47,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534587.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDL1",
"gene_hgnc_id": 26010,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ala16Gly",
"transcript": "XM_011534588.3",
"protein_id": "XP_011532890.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 622,
"cds_start": 47,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534588.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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}
],
"message": null
}