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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: 10-18539380-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18539380&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 18539380,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000324631.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1639C>A",
"hgvs_p": "p.Arg547Ser",
"transcript": "NM_201596.3",
"protein_id": "NP_963890.2",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 660,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "ENST00000324631.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1639C>A",
"hgvs_p": "p.Arg547Ser",
"transcript": "ENST00000324631.13",
"protein_id": "ENSP00000320025.8",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 660,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "NM_201596.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1477C>A",
"hgvs_p": "p.Arg493Ser",
"transcript": "NM_201590.3",
"protein_id": "NP_963884.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 606,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "ENST00000377329.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1477C>A",
"hgvs_p": "p.Arg493Ser",
"transcript": "ENST00000377329.10",
"protein_id": "ENSP00000366546.4",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 606,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "NM_201590.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1567C>A",
"hgvs_p": "p.Arg523Ser",
"transcript": "ENST00000352115.10",
"protein_id": "ENSP00000344474.6",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 636,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1555C>A",
"hgvs_p": "p.Arg519Ser",
"transcript": "ENST00000282343.13",
"protein_id": "ENSP00000282343.8",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 632,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "ENST00000377315.6",
"protein_id": "ENSP00000366532.4",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 612,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Arg492Ser",
"transcript": "ENST00000396576.6",
"protein_id": "ENSP00000379821.2",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 605,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000377319.9",
"protein_id": "ENSP00000366536.3",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 567,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Arg422Ser",
"transcript": "ENST00000377331.8",
"protein_id": "ENSP00000366548.4",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 528,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1589,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.889C>A",
"hgvs_p": "p.Arg297Ser",
"transcript": "ENST00000377328.5",
"protein_id": "ENSP00000366545.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 410,
"cds_start": 889,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 889,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.377-81G>T",
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1567C>A",
"hgvs_p": "p.Arg523Ser",
"transcript": "NM_201597.3",
"protein_id": "NP_963891.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 636,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1555C>A",
"hgvs_p": "p.Arg519Ser",
"transcript": "NM_201571.4",
"protein_id": "NP_963865.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 632,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1525C>A",
"hgvs_p": "p.Arg509Ser",
"transcript": "NM_201593.3",
"protein_id": "NP_963887.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 622,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1495C>A",
"hgvs_p": "p.Arg499Ser",
"transcript": "NM_201570.3",
"protein_id": "NP_963864.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 612,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"transcript": "NM_201572.4",
"protein_id": "NP_963866.2",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 608,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"transcript": "ENST00000645287.2",
"protein_id": "ENSP00000496203.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 608,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Arg492Ser",
"transcript": "NM_000724.4",
"protein_id": "NP_000715.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 605,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Arg487Ser",
"transcript": "ENST00000652391.1",
"protein_id": "ENSP00000498938.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 600,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1441C>A",
"hgvs_p": "p.Arg481Ser",
"transcript": "NM_001167945.2",
"protein_id": "NP_001161417.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 594,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1441C>A",
"hgvs_p": "p.Arg481Ser",
"transcript": "ENST00000643096.2",
"protein_id": "ENSP00000494209.2",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 583,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1753,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Ser",
"transcript": "ENST00000617363.4",
"protein_id": "ENSP00000479756.1",
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],
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}