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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: 18-45730381-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45730381&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 45730381,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001128588.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "NM_015865.7",
"protein_id": "NP_056949.4",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321925.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015865.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000321925.9",
"protein_id": "ENSP00000318546.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015865.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321925.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000586142.5",
"protein_id": "ENSP00000470476.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586142.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000589700.5",
"protein_id": "ENSP00000465044.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 302,
"cds_start": 61,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589700.5"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.-55-3893C>G",
"hgvs_p": null,
"transcript": "ENST00000535474.5",
"protein_id": "ENSP00000441998.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535474.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Gln77Glu",
"transcript": "NM_001128588.4",
"protein_id": "NP_001122060.3",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 445,
"cds_start": 229,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128588.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Gln77Glu",
"transcript": "NM_001146037.1",
"protein_id": "NP_001139509.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 445,
"cds_start": 229,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146037.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Gln77Glu",
"transcript": "ENST00000415427.7",
"protein_id": "ENSP00000412309.2",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 445,
"cds_start": 229,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415427.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Gln77Glu",
"transcript": "ENST00000436407.7",
"protein_id": "ENSP00000390637.2",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 445,
"cds_start": 229,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436407.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Gln77Glu",
"transcript": "NM_001439164.1",
"protein_id": "NP_001426093.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 402,
"cds_start": 229,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439164.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "NM_001146036.3",
"protein_id": "NP_001139508.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146036.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000586951.6",
"protein_id": "ENSP00000465702.2",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586951.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899336.1",
"protein_id": "ENSP00000569395.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899336.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899337.1",
"protein_id": "ENSP00000569396.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899337.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899338.1",
"protein_id": "ENSP00000569397.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899338.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899339.1",
"protein_id": "ENSP00000569398.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899339.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899340.1",
"protein_id": "ENSP00000569399.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899340.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899341.1",
"protein_id": "ENSP00000569400.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899341.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000899342.1",
"protein_id": "ENSP00000569401.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 389,
"cds_start": 61,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899342.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000964132.1",
"protein_id": "ENSP00000634191.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 344,
"cds_start": 61,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964132.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000619403.4",
"protein_id": "ENSP00000479595.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 302,
"cds_start": 61,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619403.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.61C>G",
"hgvs_p": "p.Gln21Glu",
"transcript": "ENST00000586056.5",
"protein_id": "ENSP00000470055.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 135,
"cds_start": 61,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
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}
],
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}