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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: 16-23380659-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23380659&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23380659,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000336.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "NM_000336.3",
"protein_id": "NP_000327.2",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343070.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000336.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000343070.7",
"protein_id": "ENSP00000345751.2",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000336.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343070.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1916C>G",
"hgvs_p": "p.Thr639Arg",
"transcript": "ENST00000307331.9",
"protein_id": "ENSP00000302874.5",
"transcript_support_level": 5,
"aa_start": 639,
"aa_end": null,
"aa_length": 685,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307331.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1877C>G",
"hgvs_p": "p.Thr626Arg",
"transcript": "ENST00000962247.1",
"protein_id": "ENSP00000632306.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 672,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962247.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000890249.1",
"protein_id": "ENSP00000560308.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890249.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000890250.1",
"protein_id": "ENSP00000560309.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890250.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000890252.1",
"protein_id": "ENSP00000560311.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890252.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000890258.1",
"protein_id": "ENSP00000560317.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890258.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000890259.1",
"protein_id": "ENSP00000560318.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890259.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000928026.1",
"protein_id": "ENSP00000598085.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928026.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000928027.1",
"protein_id": "ENSP00000598086.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928027.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Arg",
"transcript": "ENST00000962248.1",
"protein_id": "ENSP00000632307.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 640,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962248.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1778C>G",
"hgvs_p": "p.Thr593Arg",
"transcript": "ENST00000890257.1",
"protein_id": "ENSP00000560316.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 639,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890257.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1772C>G",
"hgvs_p": "p.Thr591Arg",
"transcript": "ENST00000890251.1",
"protein_id": "ENSP00000560310.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 637,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890251.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1772C>G",
"hgvs_p": "p.Thr591Arg",
"transcript": "ENST00000928028.1",
"protein_id": "ENSP00000598087.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 637,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928028.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1772C>G",
"hgvs_p": "p.Thr591Arg",
"transcript": "ENST00000962244.1",
"protein_id": "ENSP00000632303.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 637,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962244.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1757C>G",
"hgvs_p": "p.Thr586Arg",
"transcript": "ENST00000962246.1",
"protein_id": "ENSP00000632305.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 632,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962246.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Thr567Arg",
"transcript": "ENST00000568923.5",
"protein_id": "ENSP00000456309.1",
"transcript_support_level": 3,
"aa_start": 567,
"aa_end": null,
"aa_length": 613,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568923.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Thr558Arg",
"transcript": "NM_001410900.1",
"protein_id": "NP_001397829.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 604,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410900.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Thr558Arg",
"transcript": "ENST00000568085.5",
"protein_id": "ENSP00000455673.1",
"transcript_support_level": 3,
"aa_start": 558,
"aa_end": null,
"aa_length": 604,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568085.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1664C>G",
"hgvs_p": "p.Thr555Arg",
"transcript": "ENST00000890254.1",
"protein_id": "ENSP00000560313.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 601,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890254.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "SCNN1B",
"gene_hgnc_id": 10600,
"hgvs_c": "c.1664C>G",
"hgvs_p": "p.Thr555Arg",
"transcript": "ENST00000890256.1",
"protein_id": "ENSP00000560315.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 601,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1806,
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}