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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: 16-16169805-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16169805&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16169805,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001171.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "NM_001171.6",
"protein_id": "NP_001162.5",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1503,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": "ENST00000205557.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000205557.12",
"protein_id": "ENSP00000205557.7",
"transcript_support_level": 1,
"aa_start": 946,
"aa_end": null,
"aa_length": 1503,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": "NM_001171.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205557.12"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909083.1",
"protein_id": "ENSP00000579142.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1535,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909083.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909090.1",
"protein_id": "ENSP00000579149.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1534,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909090.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2926C>A",
"hgvs_p": "p.Leu976Ile",
"transcript": "ENST00000909087.1",
"protein_id": "ENSP00000579146.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1533,
"cds_start": 2926,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909087.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2872C>A",
"hgvs_p": "p.Leu958Ile",
"transcript": "ENST00000909096.1",
"protein_id": "ENSP00000579155.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1515,
"cds_start": 2872,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909096.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909085.1",
"protein_id": "ENSP00000579144.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1511,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909085.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909097.1",
"protein_id": "ENSP00000579156.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1507,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909097.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2803C>A",
"hgvs_p": "p.Leu935Ile",
"transcript": "NM_001440309.1",
"protein_id": "NP_001427238.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2803,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2863,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440309.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2803C>A",
"hgvs_p": "p.Leu935Ile",
"transcript": "ENST00000909086.1",
"protein_id": "ENSP00000579145.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2803,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2863,
"cdna_end": null,
"cdna_length": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909086.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909094.1",
"protein_id": "ENSP00000579153.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1490,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909094.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2785C>A",
"hgvs_p": "p.Leu929Ile",
"transcript": "ENST00000909095.1",
"protein_id": "ENSP00000579154.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2785,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909095.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2761C>A",
"hgvs_p": "p.Leu921Ile",
"transcript": "ENST00000909091.1",
"protein_id": "ENSP00000579150.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1478,
"cds_start": 2761,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909091.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000909089.1",
"protein_id": "ENSP00000579148.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1476,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 5046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909089.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2743C>A",
"hgvs_p": "p.Leu915Ile",
"transcript": "ENST00000909092.1",
"protein_id": "ENSP00000579151.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2743,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909092.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile",
"transcript": "ENST00000946282.1",
"protein_id": "ENSP00000616341.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1469,
"cds_start": 2836,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946282.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2743C>A",
"hgvs_p": "p.Leu915Ile",
"transcript": "ENST00000946285.1",
"protein_id": "ENSP00000616344.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1469,
"cds_start": 2743,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946285.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2710C>A",
"hgvs_p": "p.Leu904Ile",
"transcript": "ENST00000909088.1",
"protein_id": "ENSP00000579147.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2710,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909088.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2704C>A",
"hgvs_p": "p.Leu902Ile",
"transcript": "ENST00000909093.1",
"protein_id": "ENSP00000579152.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1459,
"cds_start": 2704,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 4983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909093.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2692C>A",
"hgvs_p": "p.Leu898Ile",
"transcript": "ENST00000946284.1",
"protein_id": "ENSP00000616343.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2692,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946284.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2668C>A",
"hgvs_p": "p.Leu890Ile",
"transcript": "NM_001440310.1",
"protein_id": "NP_001427239.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2668,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440310.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.2668C>A",
"hgvs_p": "p.Leu890Ile",
"transcript": "ENST00000909084.1",
"protein_id": "ENSP00000579143.1",
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],
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"dbsnp": "rs61340537",
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"allele_count_reference_population": 27447,
"gnomad_exomes_af": 0.0177111,
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"gnomad_exomes_ac": 25158,
"gnomad_genomes_ac": 2289,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0036585330963134766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.054,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001171.6",
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"effects": [
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],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.2836C>A",
"hgvs_p": "p.Leu946Ile"
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],
"clinvar_disease": " 2, forme fruste, generalized, of infancy,Arterial calcification,Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "Autosomal recessive inherited pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2|not specified|not provided|Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}