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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: 12-2818151-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2818151&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2818151,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018463.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "NM_018463.4",
"protein_id": "NP_060933.3",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 447,
"cds_start": 280,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": "ENST00000228799.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018463.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000228799.7",
"protein_id": "ENSP00000228799.2",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 447,
"cds_start": 280,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": "NM_018463.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228799.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.97-1935G>T",
"hgvs_p": null,
"transcript": "ENST00000537851.5",
"protein_id": "ENSP00000445769.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537851.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000917242.1",
"protein_id": "ENSP00000587301.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 472,
"cds_start": 280,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917242.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000917240.1",
"protein_id": "ENSP00000587299.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 447,
"cds_start": 280,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917240.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Asp80Tyr",
"transcript": "ENST00000905246.1",
"protein_id": "ENSP00000575305.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 433,
"cds_start": 238,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905246.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000917241.1",
"protein_id": "ENSP00000587300.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 433,
"cds_start": 280,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917241.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000905245.1",
"protein_id": "ENSP00000575304.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 429,
"cds_start": 280,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905245.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000905244.1",
"protein_id": "ENSP00000575303.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 427,
"cds_start": 280,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905244.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr",
"transcript": "ENST00000905247.1",
"protein_id": "ENSP00000575306.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 404,
"cds_start": 280,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905247.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.142G>T",
"hgvs_p": "p.Asp48Tyr",
"transcript": "ENST00000944946.1",
"protein_id": "ENSP00000615005.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 401,
"cds_start": 142,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "c.97-4643G>T",
"hgvs_p": null,
"transcript": "ENST00000905243.1",
"protein_id": "ENSP00000575302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.280G>T",
"hgvs_p": null,
"transcript": "ENST00000540929.5",
"protein_id": "ENSP00000443329.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.280G>T",
"hgvs_p": null,
"transcript": "ENST00000541659.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.950G>T",
"hgvs_p": null,
"transcript": "ENST00000543029.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.280G>T",
"hgvs_p": null,
"transcript": "ENST00000644517.1",
"protein_id": "ENSP00000496068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.177G>T",
"hgvs_p": null,
"transcript": "ENST00000645513.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000645513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.373G>T",
"hgvs_p": null,
"transcript": "NR_130744.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_130744.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.373G>T",
"hgvs_p": null,
"transcript": "NR_147202.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147202.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.29+893G>T",
"hgvs_p": null,
"transcript": "ENST00000535564.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 449,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000535564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.132+893G>T",
"hgvs_p": null,
"transcript": "ENST00000644123.1",
"protein_id": "ENSP00000496213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644123.1"
}
],
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"dbsnp": "rs368815825",
"frequency_reference_population": 0.000026641652,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000287304,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8742915391921997,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.49000000953674316,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.704,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3705,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.726,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.49,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018463.4",
"gene_symbol": "ITFG2",
"hgnc_id": 30879,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Asp94Tyr"
}
],
"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
}