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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: 14-50321516-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50321516&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50321516,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001003803.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001382507.1",
"protein_id": "NP_001369436.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557421.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382507.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000557421.7",
"protein_id": "ENSP00000506374.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382507.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557421.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000311459.12",
"protein_id": "ENSP00000308334.8",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311459.12"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000554204.7",
"protein_id": "ENSP00000451583.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554204.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000426751.7",
"protein_id": "ENSP00000389246.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 121,
"cds_start": 29,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426751.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000245448.11",
"protein_id": "ENSP00000245448.7",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 112,
"cds_start": 29,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245448.11"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-73-995A>G",
"hgvs_p": null,
"transcript": "ENST00000358473.2",
"protein_id": "ENSP00000351258.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358473.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001003803.3",
"protein_id": "NP_001003803.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003803.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001370605.1",
"protein_id": "NP_001357534.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370605.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001382509.1",
"protein_id": "NP_001369438.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382509.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000554438.6",
"protein_id": "ENSP00000509859.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554438.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000554951.6",
"protein_id": "ENSP00000494641.2",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554951.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000904299.1",
"protein_id": "ENSP00000574358.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904299.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000904300.1",
"protein_id": "ENSP00000574359.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904300.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000904301.1",
"protein_id": "ENSP00000574360.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904301.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000929463.1",
"protein_id": "ENSP00000599522.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929463.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000929464.1",
"protein_id": "ENSP00000599523.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929464.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000929465.1",
"protein_id": "ENSP00000599524.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 200,
"cds_start": 29,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929465.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001382510.1",
"protein_id": "NP_001369439.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 163,
"cds_start": 29,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382510.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_015684.4",
"protein_id": "NP_056499.3",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 121,
"cds_start": 29,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015684.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "NM_001003805.3",
"protein_id": "NP_001003805.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 112,
"cds_start": 29,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003805.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Gln10Arg",
"transcript": "ENST00000672419.1",
"protein_id": "ENSP00000499920.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 112,
"cds_start": 29,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}
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}