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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: 17-16299889-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16299889&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16299889,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000225609.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_004278.4",
"protein_id": "NP_004269.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 252,
"cds_start": 337,
"cds_end": null,
"cds_length": 759,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": "ENST00000225609.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000225609.10",
"protein_id": "ENSP00000225609.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 252,
"cds_start": 337,
"cds_end": null,
"cds_length": 759,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": "NM_004278.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "NM_001411072.1",
"protein_id": "NP_001398001.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 244,
"cds_start": 337,
"cds_end": null,
"cds_length": 735,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000395844.8",
"protein_id": "ENSP00000379185.3",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 244,
"cds_start": 337,
"cds_end": null,
"cds_length": 735,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000584797.5",
"protein_id": "ENSP00000463540.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 187,
"cds_start": 337,
"cds_end": null,
"cds_length": 565,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "ENST00000581006.5",
"protein_id": "ENSP00000462432.1",
"transcript_support_level": 4,
"aa_start": 113,
"aa_end": null,
"aa_length": 150,
"cds_start": 337,
"cds_end": null,
"cds_length": 453,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "XM_047437097.1",
"protein_id": "XP_047293053.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 271,
"cds_start": 337,
"cds_end": null,
"cds_length": 816,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr",
"transcript": "XM_011524080.3",
"protein_id": "XP_011522382.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 183,
"cds_start": 337,
"cds_end": null,
"cds_length": 552,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_047437099.1",
"protein_id": "XP_047293055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_047437100.1",
"protein_id": "XP_047293056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "n.335G>T",
"hgvs_p": null,
"transcript": "ENST00000477745.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "n.354G>T",
"hgvs_p": null,
"transcript": "ENST00000498772.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "n.237G>T",
"hgvs_p": null,
"transcript": "ENST00000585034.5",
"protein_id": "ENSP00000464424.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "n.373G>T",
"hgvs_p": null,
"transcript": "ENST00000607144.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "n.354G>T",
"hgvs_p": null,
"transcript": "XR_007065545.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_047437099.1",
"protein_id": "XP_047293055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_047437100.1",
"protein_id": "XP_047293056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGL",
"gene_hgnc_id": 8966,
"dbsnp": "rs114670807",
"frequency_reference_population": 0.0010558391,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1702,
"gnomad_exomes_af": 0.0010756,
"gnomad_genomes_af": 0.00086646,
"gnomad_exomes_ac": 1570,
"gnomad_genomes_ac": 132,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015003979206085205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.362,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.504,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000138749840180189,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000225609.10",
"gene_symbol": "PIGL",
"hgnc_id": 8966,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Asp113Tyr"
}
],
"clinvar_disease": "CHIME syndrome,PIGL-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "CHIME syndrome|not provided|PIGL-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}