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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: 17-79047762-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79047762&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79047762,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000579760.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "NM_030968.5",
"protein_id": "NP_112230.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": "ENST00000579760.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000579760.6",
"protein_id": "ENSP00000463922.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": "NM_030968.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000580474.1",
"protein_id": "ENSP00000463108.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000581774.5",
"protein_id": "ENSP00000462481.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "NM_153372.3",
"protein_id": "NP_699203.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "NM_198593.4",
"protein_id": "NP_940995.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000339142.6",
"protein_id": "ENSP00000340864.2",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000354124.7",
"protein_id": "ENSP00000343230.4",
"transcript_support_level": 4,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000392445.6",
"protein_id": "ENSP00000376240.2",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000580454.5",
"protein_id": "ENSP00000462990.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "ENST00000583904.5",
"protein_id": "ENSP00000463008.1",
"transcript_support_level": 4,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "NM_198594.4",
"protein_id": "NP_940996.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 199,
"cds_start": 274,
"cds_end": null,
"cds_length": 600,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "ENST00000311661.4",
"protein_id": "ENSP00000311265.4",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 199,
"cds_start": 274,
"cds_end": null,
"cds_length": 600,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "ENST00000578229.5",
"protein_id": "ENSP00000463337.1",
"transcript_support_level": 4,
"aa_start": 92,
"aa_end": null,
"aa_length": 199,
"cds_start": 274,
"cds_end": null,
"cds_length": 600,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Leu272Ile",
"transcript": "XM_006721663.1",
"protein_id": "XP_006721726.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 379,
"cds_start": 814,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "XM_006721664.2",
"protein_id": "XP_006721727.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 330,
"cds_start": 667,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Ile",
"transcript": "XM_006721666.2",
"protein_id": "XP_006721729.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 291,
"cds_start": 550,
"cds_end": null,
"cds_length": 876,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Ile",
"transcript": "XM_047435295.1",
"protein_id": "XP_047291251.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 291,
"cds_start": 550,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Ile",
"transcript": "XM_047435296.1",
"protein_id": "XP_047291252.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 291,
"cds_start": 550,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "XM_024450561.2",
"protein_id": "XP_024306329.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"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": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile",
"transcript": "XM_047435297.1",
"protein_id": "XP_047291253.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 520,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "XM_017024126.1",
"protein_id": "XP_016879615.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 199,
"cds_start": 274,
"cds_end": null,
"cds_length": 600,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3084,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
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"transcript": "ENST00000582625.1",
"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,
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"cdna_length": 1088,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF1",
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"hgvs_c": "n.845C>A",
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"transcript": "NR_049769.3",
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"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": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C1QTNF1",
"gene_hgnc_id": 14324,
"dbsnp": "rs2072628888",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5032179355621338,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.504,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1511,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.997,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000579760.6",
"gene_symbol": "C1QTNF1",
"hgnc_id": 14324,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Leu174Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}