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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: 10-18527610-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18527610&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 18527610,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000324631.13",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "NM_201596.3",
"protein_id": "NP_963890.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 660,
"cds_start": 967,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "ENST00000324631.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser",
"transcript": "ENST00000324631.13",
"protein_id": "ENSP00000320025.8",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 660,
"cds_start": 967,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "NM_201596.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.805G>T",
"hgvs_p": "p.Ala269Ser",
"transcript": "NM_201590.3",
"protein_id": "NP_963884.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 606,
"cds_start": 805,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "ENST00000377329.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.805G>T",
"hgvs_p": "p.Ala269Ser",
"transcript": "ENST00000377329.10",
"protein_id": "ENSP00000366546.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 606,
"cds_start": 805,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "NM_201590.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Ala299Ser",
"transcript": "ENST00000352115.10",
"protein_id": "ENSP00000344474.6",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 636,
"cds_start": 895,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Ala295Ser",
"transcript": "ENST00000282343.13",
"protein_id": "ENSP00000282343.8",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 632,
"cds_start": 883,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.823G>T",
"hgvs_p": "p.Ala275Ser",
"transcript": "ENST00000377315.6",
"protein_id": "ENSP00000366532.4",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 612,
"cds_start": 823,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"transcript": "ENST00000396576.6",
"protein_id": "ENSP00000379821.2",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 605,
"cds_start": 802,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Ala230Ser",
"transcript": "ENST00000377319.9",
"protein_id": "ENSP00000366536.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 567,
"cds_start": 688,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Ala230Ser",
"transcript": "ENST00000377331.8",
"protein_id": "ENSP00000366548.4",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 528,
"cds_start": 688,
"cds_end": null,
"cds_length": 1589,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.457-8491G>T",
"hgvs_p": null,
"transcript": "ENST00000377328.5",
"protein_id": "ENSP00000366545.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.482+11584C>A",
"hgvs_p": null,
"transcript": "ENST00000425669.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Ala299Ser",
"transcript": "NM_201597.3",
"protein_id": "NP_963891.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 636,
"cds_start": 895,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Ala295Ser",
"transcript": "NM_201571.4",
"protein_id": "NP_963865.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 632,
"cds_start": 883,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.853G>T",
"hgvs_p": "p.Ala285Ser",
"transcript": "NM_201593.3",
"protein_id": "NP_963887.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 622,
"cds_start": 853,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.823G>T",
"hgvs_p": "p.Ala275Ser",
"transcript": "NM_201570.3",
"protein_id": "NP_963864.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 612,
"cds_start": 823,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.811G>T",
"hgvs_p": "p.Ala271Ser",
"transcript": "NM_201572.4",
"protein_id": "NP_963866.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 608,
"cds_start": 811,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.811G>T",
"hgvs_p": "p.Ala271Ser",
"transcript": "ENST00000645287.2",
"protein_id": "ENSP00000496203.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 608,
"cds_start": 811,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Ala268Ser",
"transcript": "NM_000724.4",
"protein_id": "NP_000715.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 605,
"cds_start": 802,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"transcript": "ENST00000652391.1",
"protein_id": "ENSP00000498938.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 600,
"cds_start": 787,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.769G>T",
"hgvs_p": "p.Ala257Ser",
"transcript": "NM_001167945.2",
"protein_id": "NP_001161417.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 594,
"cds_start": 769,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.769G>T",
"hgvs_p": "p.Ala257Ser",
"transcript": "ENST00000643096.2",
"protein_id": "ENSP00000494209.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 583,
"cds_start": 769,
"cds_end": null,
"cds_length": 1753,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Ala244Ser",
"transcript": "ENST00000617363.4",
"protein_id": "ENSP00000479756.1",
"transcript_support_level": 5,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000324631.13",
"gene_symbol": "CACNB2",
"hgnc_id": 1402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Ala323Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000425669.1",
"gene_symbol": "ENSG00000240291",
"hgnc_id": 58168,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.482+11584C>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007062076.1",
"gene_symbol": "CACNB2-AS1",
"hgnc_id": 58168,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.84-8780C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome 4,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Cardiovascular phenotype|Brugada syndrome 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}