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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: 19-18419661-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18419661&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SSBP4",
"hgnc_id": 15676,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032627.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.7898,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04296159744262695,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1158,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032627.5",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000270061.12",
"protein_coding": true,
"protein_id": "NP_116016.1",
"strand": true,
"transcript": "NM_032627.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1158,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000270061.12",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032627.5",
"protein_coding": true,
"protein_id": "ENSP00000270061.5",
"strand": true,
"transcript": "ENST00000270061.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 435,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 278,
"cds_end": null,
"cds_length": 1308,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000915352.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585411.1",
"strand": true,
"transcript": "ENST00000915352.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 252,
"cds_end": null,
"cds_length": 1098,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000867041.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537100.1",
"strand": true,
"transcript": "ENST00000867041.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1092,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001009998.4",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001009998.1",
"strand": true,
"transcript": "NM_001009998.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1092,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000348495.10",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252807.7",
"strand": true,
"transcript": "ENST00000348495.10",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 252,
"cds_end": null,
"cds_length": 1089,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000867042.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537101.1",
"strand": true,
"transcript": "ENST00000867042.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1056,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964016.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634075.1",
"strand": true,
"transcript": "ENST00000964016.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 349,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1050,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000915353.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585412.1",
"strand": true,
"transcript": "ENST00000915353.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 343,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1032,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964017.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634076.1",
"strand": true,
"transcript": "ENST00000964017.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 333,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1002,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964018.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634077.1",
"strand": true,
"transcript": "ENST00000964018.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 321,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 252,
"cds_end": null,
"cds_length": 966,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000915354.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585413.1",
"strand": true,
"transcript": "ENST00000915354.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 53,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 162,
"cdna_start": 13,
"cds_end": null,
"cds_length": 162,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
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"feature": "ENST00000625926.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486132.1",
"strand": true,
"transcript": "ENST00000625926.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 444,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1335,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047438366.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294322.1",
"strand": true,
"transcript": "XM_047438366.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 435,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1308,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006722666.3",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722729.1",
"strand": true,
"transcript": "XM_006722666.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 413,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1242,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006722668.3",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722731.1",
"strand": true,
"transcript": "XM_006722668.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1185,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047438377.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Gly5Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294333.1",
"strand": true,
"transcript": "XM_047438377.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": 704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597724.6",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.125+512G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475538.2",
"strand": true,
"transcript": "ENST00000597724.6",
"transcript_support_level": 5
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": null,
"cds_end": null,
"cds_length": 169,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601357.6",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.-248+46G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475668.2",
"strand": true,
"transcript": "ENST00000601357.6",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722665.5",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.125+512G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722728.1",
"strand": true,
"transcript": "XM_006722665.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438367.1",
"gene_hgnc_id": 15676,
"gene_symbol": "SSBP4",
"hgvs_c": "c.125+512G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294323.1",
"strand": true,
"transcript": "XM_047438367.1",
"transcript_support_level": null
},
{
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