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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: 19-42301952-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42301952&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PAFAH1B3",
"hgnc_id": 8576,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002573.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "PRR19",
"hgnc_id": 33728,
"hgvs_c": "c.-558C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_199285.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7089,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5047938823699951,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 481,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002573.4",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262890.8",
"protein_coding": true,
"protein_id": "NP_002564.1",
"strand": false,
"transcript": "NM_002573.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 481,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000262890.8",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002573.4",
"protein_coding": true,
"protein_id": "ENSP00000262890.2",
"strand": false,
"transcript": "ENST00000262890.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 370,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145939.2",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139411.1",
"strand": false,
"transcript": "NM_001145939.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 284,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145940.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139412.1",
"strand": false,
"transcript": "NM_001145940.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1098,
"cdna_start": 523,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000538771.5",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444935.1",
"strand": false,
"transcript": "ENST00000538771.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 231,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 208,
"cds_end": null,
"cds_length": 696,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000877854.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547913.1",
"strand": false,
"transcript": "ENST00000877854.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 648,
"cds_end": null,
"cds_length": 690,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916656.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586715.1",
"strand": false,
"transcript": "ENST00000916656.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 218,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 918,
"cdna_start": 382,
"cds_end": null,
"cds_length": 657,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877855.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547914.1",
"strand": false,
"transcript": "ENST00000877855.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 209,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 464,
"cds_end": null,
"cds_length": 630,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916659.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586718.1",
"strand": false,
"transcript": "ENST00000916659.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 201,
"aa_ref": "E",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": 149,
"cds_end": null,
"cds_length": 606,
"cds_start": 148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000594989.5",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Glu50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471933.1",
"strand": false,
"transcript": "ENST00000594989.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 192,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 488,
"cds_end": null,
"cds_length": 579,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916658.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586717.1",
"strand": false,
"transcript": "ENST00000916658.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 190,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 796,
"cdna_start": 345,
"cds_end": null,
"cds_length": 573,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916662.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586721.1",
"strand": false,
"transcript": "ENST00000916662.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 185,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 348,
"cds_end": null,
"cds_length": 558,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916661.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586720.1",
"strand": false,
"transcript": "ENST00000916661.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 179,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 528,
"cds_end": null,
"cds_length": 540,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916657.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586716.1",
"strand": false,
"transcript": "ENST00000916657.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 168,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 442,
"cds_end": null,
"cds_length": 507,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916660.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586719.1",
"strand": false,
"transcript": "ENST00000916660.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 163,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 254,
"cds_end": null,
"cds_length": 494,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000595530.5",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473065.1",
"strand": false,
"transcript": "ENST00000595530.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 151,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": 258,
"cds_end": null,
"cds_length": 456,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877856.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547915.1",
"strand": false,
"transcript": "ENST00000877856.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 465,
"cdna_start": 212,
"cds_end": null,
"cds_length": 419,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000596265.5",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470753.1",
"strand": false,
"transcript": "ENST00000596265.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 95,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 646,
"cdna_start": 523,
"cds_end": null,
"cds_length": 289,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000601865.5",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472950.1",
"strand": false,
"transcript": "ENST00000601865.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 94,
"aa_ref": "E",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 380,
"cdna_start": 261,
"cds_end": null,
"cds_length": 285,
"cds_start": 166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000599778.1",
"gene_hgnc_id": 8576,
"gene_symbol": "PAFAH1B3",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Glu56Lys",
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}