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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: 12-51993995-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51993995&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51993995,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020328.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1403T>G",
"hgvs_p": "p.Val468Gly",
"transcript": "NM_004302.5",
"protein_id": "NP_004293.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 505,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004302.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1403T>G",
"hgvs_p": "p.Val468Gly",
"transcript": "ENST00000257963.9",
"protein_id": "ENSP00000257963.4",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 505,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004302.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257963.9"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1526T>G",
"hgvs_p": "p.Val509Gly",
"transcript": "NM_020328.4",
"protein_id": "NP_064733.3",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 546,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020328.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1526T>G",
"hgvs_p": "p.Val509Gly",
"transcript": "ENST00000541224.5",
"protein_id": "ENSP00000442656.1",
"transcript_support_level": 2,
"aa_start": 509,
"aa_end": null,
"aa_length": 546,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541224.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Val508Gly",
"transcript": "NM_001412774.1",
"protein_id": "NP_001399703.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 545,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412774.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Val508Gly",
"transcript": "ENST00000900350.1",
"protein_id": "ENSP00000570409.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 545,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900350.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1400T>G",
"hgvs_p": "p.Val467Gly",
"transcript": "NM_001412775.1",
"protein_id": "NP_001399704.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 504,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412775.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1262T>G",
"hgvs_p": "p.Val421Gly",
"transcript": "NM_001412776.1",
"protein_id": "NP_001399705.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 458,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412776.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1262T>G",
"hgvs_p": "p.Val421Gly",
"transcript": "ENST00000900349.1",
"protein_id": "ENSP00000570408.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 458,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900349.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "NM_001412778.1",
"protein_id": "NP_001399707.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412778.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "NM_001412779.1",
"protein_id": "NP_001399708.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412779.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "NM_001412780.1",
"protein_id": "NP_001399709.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412780.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "NM_001412781.1",
"protein_id": "NP_001399710.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412781.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "NM_020327.5",
"protein_id": "NP_064732.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020327.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1247T>G",
"hgvs_p": "p.Val416Gly",
"transcript": "ENST00000542485.1",
"protein_id": "ENSP00000442885.1",
"transcript_support_level": 2,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542485.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1244T>G",
"hgvs_p": "p.Val415Gly",
"transcript": "ENST00000900347.1",
"protein_id": "ENSP00000570406.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 452,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900347.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Val412Gly",
"transcript": "ENST00000900348.1",
"protein_id": "ENSP00000570407.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 449,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900348.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1172T>G",
"hgvs_p": "p.Val391Gly",
"transcript": "NM_001412777.1",
"protein_id": "NP_001399706.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 428,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412777.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1172T>G",
"hgvs_p": "p.Val391Gly",
"transcript": "ENST00000900346.1",
"protein_id": "ENSP00000570405.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 428,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900346.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Val374Gly",
"transcript": "NM_001412782.1",
"protein_id": "NP_001399711.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 411,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412782.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1004T>G",
"hgvs_p": "p.Val335Gly",
"transcript": "NM_001412784.1",
"protein_id": "NP_001399713.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 372,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412784.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.953T>G",
"hgvs_p": "p.Val318Gly",
"transcript": "NM_001412785.1",
"protein_id": "NP_001399714.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 355,
"cds_start": 953,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412785.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
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{
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],
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"frequency_reference_population": 6.841321e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84132e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.553,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
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"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020328.4",
"gene_symbol": "ACVR1B",
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"effects": [
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],
"inheritance_mode": "Unknown",
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],
"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
}