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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: 12-75048248-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75048248&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 75048248,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139137.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_139137.4",
"protein_id": "NP_631875.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 638,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549446.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139137.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000549446.6",
"protein_id": "ENSP00000449253.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 638,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549446.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000550433.5",
"protein_id": "ENSP00000448301.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 629,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550433.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000393288.2",
"protein_id": "ENSP00000376966.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 618,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393288.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000548513.5",
"protein_id": "ENSP00000449941.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 613,
"cds_start": 1685,
"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": "ENST00000548513.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001414192.1",
"protein_id": "NP_001401121.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 638,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414192.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000888265.1",
"protein_id": "ENSP00000558324.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 638,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888265.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000962253.1",
"protein_id": "ENSP00000632312.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 638,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962253.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001260498.2",
"protein_id": "NP_001247427.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 629,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260498.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001414193.1",
"protein_id": "NP_001401122.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 625,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414193.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545His",
"transcript": "NM_001414194.1",
"protein_id": "NP_001401123.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 621,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414194.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001260497.2",
"protein_id": "NP_001247426.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 618,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260497.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001414195.1",
"protein_id": "NP_001401124.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 613,
"cds_start": 1685,
"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": "NM_001414195.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_001414196.1",
"protein_id": "NP_001401125.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 613,
"cds_start": 1685,
"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": "NM_001414196.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "NM_139136.4",
"protein_id": "NP_631874.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 613,
"cds_start": 1685,
"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": "NM_139136.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "ENST00000298972.5",
"protein_id": "ENSP00000298972.1",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 613,
"cds_start": 1685,
"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": "ENST00000298972.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"transcript": "NM_001414202.1",
"protein_id": "NP_001401131.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 612,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414202.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"transcript": "NM_001414206.1",
"protein_id": "NP_001401135.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 612,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414206.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"transcript": "NM_001414213.1",
"protein_id": "NP_001401142.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 612,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414213.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545His",
"transcript": "NM_001414198.1",
"protein_id": "NP_001401127.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 601,
"cds_start": 1634,
"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": "NM_001414198.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "XM_047428810.1",
"protein_id": "XP_047284766.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 629,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428810.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562His",
"transcript": "XM_047428811.1",
"protein_id": "XP_047284767.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 618,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428811.1"
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"phenotype_combined": "Inborn genetic diseases",
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}
],
"message": null
}