← Back to variant description
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: 7-43407703-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43407703&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43407703,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015052.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "NM_015052.5",
"protein_id": "NP_055867.3",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1606,
"cds_start": 773,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "ENST00000395891.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "ENST00000395891.7",
"protein_id": "ENSP00000379228.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 1606,
"cds_start": 773,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "NM_015052.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "NM_001287059.2",
"protein_id": "NP_001273988.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1572,
"cds_start": 773,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 9116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "ENST00000453890.5",
"protein_id": "ENSP00000407774.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 1572,
"cds_start": 773,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "XM_017011882.2",
"protein_id": "XP_016867371.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1639,
"cds_start": 869,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "XM_017011883.3",
"protein_id": "XP_016867372.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1639,
"cds_start": 869,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 9398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "XM_017011884.2",
"protein_id": "XP_016867373.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1638,
"cds_start": 869,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "XM_006715670.4",
"protein_id": "XP_006715733.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 1608,
"cds_start": 776,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "XM_006715671.4",
"protein_id": "XP_006715734.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 1607,
"cds_start": 776,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "XM_011515220.3",
"protein_id": "XP_011513522.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1607,
"cds_start": 773,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 9075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "XM_047420064.1",
"protein_id": "XP_047276020.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1607,
"cds_start": 773,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 9000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser",
"transcript": "XM_047420065.1",
"protein_id": "XP_047276021.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1606,
"cds_start": 773,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 9072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "XM_017011887.2",
"protein_id": "XP_016867376.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1605,
"cds_start": 869,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.869A>G",
"hgvs_p": "p.Asn290Ser",
"transcript": "XM_017011888.2",
"protein_id": "XP_016867377.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1604,
"cds_start": 869,
"cds_end": null,
"cds_length": 4815,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 9155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asn237Ser",
"transcript": "XM_011515222.3",
"protein_id": "XP_011513524.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1586,
"cds_start": 710,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 9220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asn237Ser",
"transcript": "XM_011515223.3",
"protein_id": "XP_011513525.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1586,
"cds_start": 710,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asn237Ser",
"transcript": "XM_011515224.3",
"protein_id": "XP_011513526.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1586,
"cds_start": 710,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 9484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asn237Ser",
"transcript": "XM_047420066.1",
"protein_id": "XP_047276022.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 1585,
"cds_start": 710,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 9013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Asn259Ser",
"transcript": "XM_006715673.4",
"protein_id": "XP_006715736.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 1573,
"cds_start": 776,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 9058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Asn131Ser",
"transcript": "XM_011515225.2",
"protein_id": "XP_011513527.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1480,
"cds_start": 392,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 8533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Asn88Ser",
"transcript": "XM_011515226.4",
"protein_id": "XP_011513528.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1437,
"cds_start": 263,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.265A>G",
"hgvs_p": null,
"transcript": "ENST00000471043.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.384A>G",
"hgvs_p": null,
"transcript": "ENST00000481031.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.1397A>G",
"hgvs_p": null,
"transcript": "ENST00000492310.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"dbsnp": "rs371180560",
"frequency_reference_population": 0.00000929686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000075262,
"gnomad_genomes_af": 0.0000263352,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3771202564239502,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.2652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.841,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015052.5",
"gene_symbol": "HECW1",
"hgnc_id": 22195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.773A>G",
"hgvs_p": "p.Asn258Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}