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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: 19-48234449-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48234449&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48234449,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001184900.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "NM_001184900.3",
"protein_id": "NP_001171829.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 537,
"cds_start": 304,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651546.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184900.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000651546.1",
"protein_id": "ENSP00000499211.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 537,
"cds_start": 304,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001184900.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651546.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000391898.7",
"protein_id": "ENSP00000375767.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 537,
"cds_start": 304,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391898.7"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000520153.5",
"protein_id": "ENSP00000428736.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 487,
"cds_start": 154,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520153.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000520753.5",
"protein_id": "ENSP00000429839.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 392,
"cds_start": 304,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520753.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.154T>G",
"hgvs_p": null,
"transcript": "ENST00000518622.5",
"protein_id": "ENSP00000430057.1",
"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": "ENST00000518622.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.154T>G",
"hgvs_p": null,
"transcript": "ENST00000518979.5",
"protein_id": "ENSP00000430495.1",
"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": "ENST00000518979.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.304T>G",
"hgvs_p": null,
"transcript": "ENST00000521415.5",
"protein_id": "ENSP00000428862.1",
"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": "ENST00000521415.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "n.304T>G",
"hgvs_p": null,
"transcript": "ENST00000522773.5",
"protein_id": "ENSP00000429362.1",
"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": "ENST00000522773.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "NM_001351782.2",
"protein_id": "NP_001338711.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 537,
"cds_start": 304,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351782.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000519940.6",
"protein_id": "ENSP00000428883.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 537,
"cds_start": 304,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519940.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000877775.1",
"protein_id": "ENSP00000547834.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 536,
"cds_start": 304,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877775.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000877776.1",
"protein_id": "ENSP00000547835.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 536,
"cds_start": 304,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877776.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000930774.1",
"protein_id": "ENSP00000600833.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 536,
"cds_start": 304,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930774.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000946860.1",
"protein_id": "ENSP00000616919.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 536,
"cds_start": 304,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946860.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000946861.1",
"protein_id": "ENSP00000616920.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 536,
"cds_start": 304,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946861.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.298T>G",
"hgvs_p": "p.Phe100Val",
"transcript": "ENST00000877780.1",
"protein_id": "ENSP00000547839.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 535,
"cds_start": 298,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877780.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.298T>G",
"hgvs_p": "p.Phe100Val",
"transcript": "ENST00000946859.1",
"protein_id": "ENSP00000616918.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 535,
"cds_start": 298,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946859.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.220T>G",
"hgvs_p": "p.Phe74Val",
"transcript": "ENST00000877783.1",
"protein_id": "ENSP00000547842.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 509,
"cds_start": 220,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877783.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000877781.1",
"protein_id": "ENSP00000547840.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 495,
"cds_start": 304,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877781.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.304T>G",
"hgvs_p": "p.Phe102Val",
"transcript": "ENST00000946858.1",
"protein_id": "ENSP00000616917.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 495,
"cds_start": 304,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946858.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD8",
"gene_hgnc_id": 17057,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001184901.1",
"protein_id": "NP_001171830.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 487,
"cds_start": 154,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}