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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: 19-38710307-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38710307&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38710307,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001440296.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "NM_004924.6",
"protein_id": "NP_004915.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 911,
"cds_start": 784,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252699.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004924.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000252699.7",
"protein_id": "ENSP00000252699.2",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 911,
"cds_start": 784,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004924.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252699.7"
},
{
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.733+831T>C",
"hgvs_p": null,
"transcript": "ENST00000424234.7",
"protein_id": "ENSP00000411187.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": null,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424234.7"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.163-4162T>C",
"hgvs_p": null,
"transcript": "ENST00000390009.7",
"protein_id": "ENSP00000439497.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000390009.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "n.881T>C",
"hgvs_p": null,
"transcript": "ENST00000588618.5",
"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": "retained_intron",
"feature": "ENST00000588618.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871334.1",
"protein_id": "ENSP00000541393.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 962,
"cds_start": 784,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871334.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Ser302Pro",
"transcript": "ENST00000871336.1",
"protein_id": "ENSP00000541395.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 951,
"cds_start": 904,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871336.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871329.1",
"protein_id": "ENSP00000541388.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 936,
"cds_start": 784,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871329.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.859T>C",
"hgvs_p": "p.Ser287Pro",
"transcript": "ENST00000871331.1",
"protein_id": "ENSP00000541390.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 936,
"cds_start": 859,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871331.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "NM_001440296.1",
"protein_id": "NP_001427225.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 933,
"cds_start": 784,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440296.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871326.1",
"protein_id": "ENSP00000541385.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 933,
"cds_start": 784,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871326.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871335.1",
"protein_id": "ENSP00000541394.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 925,
"cds_start": 784,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871335.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871327.1",
"protein_id": "ENSP00000541386.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 909,
"cds_start": 784,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871327.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871325.1",
"protein_id": "ENSP00000541384.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 908,
"cds_start": 784,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871325.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "NM_001440298.1",
"protein_id": "NP_001427227.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 906,
"cds_start": 784,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440298.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871324.1",
"protein_id": "ENSP00000541383.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 906,
"cds_start": 784,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871324.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.697T>C",
"hgvs_p": "p.Ser233Pro",
"transcript": "ENST00000871332.1",
"protein_id": "ENSP00000541391.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 882,
"cds_start": 697,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871332.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Ser215Pro",
"transcript": "ENST00000697712.1",
"protein_id": "ENSP00000513410.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 864,
"cds_start": 643,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697712.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Ser262Pro",
"transcript": "ENST00000871330.1",
"protein_id": "ENSP00000541389.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 851,
"cds_start": 784,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871330.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.532T>C",
"hgvs_p": "p.Ser178Pro",
"transcript": "NM_001440299.1",
"protein_id": "NP_001427228.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 827,
"cds_start": 532,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440299.1"
},
{
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.733+831T>C",
"hgvs_p": null,
"transcript": "NM_001440300.1",
"protein_id": "NP_001427229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440300.1"
},
{
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACTN4",
"gene_hgnc_id": 166,
"hgvs_c": "c.733+831T>C",
"hgvs_p": null,
"transcript": "ENST00000924369.1",
"protein_id": "ENSP00000594428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924369.1"
},
{
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}
],
"message": null
}