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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: 10-69382591-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69382591&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HK1",
"hgnc_id": 4922,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Thr492Met",
"inheritance_mode": "AD,AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001322365.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5993,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "10",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Charcot-Marie-Tooth disease type 4G,Hemolytic anemia due to hexokinase deficiency,Inborn genetic diseases,Neurodevelopmental disorder with visual defects and brain anomalies,Retinitis pigmentosa 79,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6872354745864868,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001358263.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000643399.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001345192.1",
"strand": true,
"transcript": "NM_001358263.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643399.2",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001358263.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494664.1",
"strand": true,
"transcript": "ENST00000643399.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 917,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000188.3",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359426.7",
"protein_coding": true,
"protein_id": "NP_000179.2",
"strand": true,
"transcript": "NM_000188.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 917,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000359426.7",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000188.3",
"protein_coding": true,
"protein_id": "ENSP00000352398.6",
"strand": true,
"transcript": "ENST00000359426.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 954,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934397.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604456.1",
"strand": true,
"transcript": "ENST00000934397.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 952,
"aa_ref": "T",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3995,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001322365.2",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Thr492Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309294.1",
"strand": true,
"transcript": "NM_001322365.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 933,
"aa_ref": "T",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 2802,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970248.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640307.1",
"strand": true,
"transcript": "ENST00000970248.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001322364.2",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309293.1",
"strand": true,
"transcript": "NM_001322364.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_033497.3",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_277032.1",
"strand": true,
"transcript": "NM_033497.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_033498.3",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_277033.1",
"strand": true,
"transcript": "NM_033498.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000436817.6",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415949.2",
"strand": true,
"transcript": "ENST00000436817.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001441139.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428068.1",
"strand": true,
"transcript": "NM_001441139.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_033496.3",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_277031.1",
"strand": true,
"transcript": "NM_033496.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000298649.8",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1367C>T",
"hgvs_p": "p.Thr456Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298649.3",
"strand": true,
"transcript": "ENST00000298649.8",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001441140.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Thr454Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428069.1",
"strand": true,
"transcript": "NM_001441140.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001441141.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428070.1",
"strand": true,
"transcript": "NM_001441141.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904596.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574655.1",
"strand": true,
"transcript": "ENST00000904596.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 905,
"aa_ref": "T",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 2718,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_033500.2",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Thr445Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_277035.2",
"strand": true,
"transcript": "NM_033500.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 903,
"aa_ref": "T",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001441142.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Thr443Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428071.1",
"strand": true,
"transcript": "NM_001441142.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 897,
"aa_ref": "T",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934395.1",
"gene_hgnc_id": 4922,
"gene_symbol": "HK1",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Thr437Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604454.1",
"strand": true,
"transcript": "ENST00000934395.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 889,
"aa_ref": "T",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 18,
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