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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: 7-2649961-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2649961&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2649961,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025250.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "NM_025250.3",
"protein_id": "NP_079526.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 523,
"cds_start": 844,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": "ENST00000258796.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025250.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000258796.12",
"protein_id": "ENSP00000258796.7",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 523,
"cds_start": 844,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": "NM_025250.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258796.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.1153G>T",
"hgvs_p": "p.Val385Leu",
"transcript": "ENST00000913086.1",
"protein_id": "ENSP00000583145.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 626,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 5152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913086.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913085.1",
"protein_id": "ENSP00000583144.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 557,
"cds_start": 844,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913085.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Val303Leu",
"transcript": "ENST00000913080.1",
"protein_id": "ENSP00000583139.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 544,
"cds_start": 907,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913080.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913079.1",
"protein_id": "ENSP00000583138.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 539,
"cds_start": 844,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913079.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Val297Leu",
"transcript": "ENST00000913083.1",
"protein_id": "ENSP00000583142.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 538,
"cds_start": 889,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913083.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000429448.2",
"protein_id": "ENSP00000413757.2",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 526,
"cds_start": 844,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429448.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000969081.1",
"protein_id": "ENSP00000639140.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 522,
"cds_start": 844,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969081.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Val280Leu",
"transcript": "ENST00000913087.1",
"protein_id": "ENSP00000583146.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 521,
"cds_start": 838,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913087.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913088.1",
"protein_id": "ENSP00000583147.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 508,
"cds_start": 844,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913088.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913078.1",
"protein_id": "ENSP00000583137.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 492,
"cds_start": 844,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913078.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913082.1",
"protein_id": "ENSP00000583141.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 492,
"cds_start": 844,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913082.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Val250Leu",
"transcript": "ENST00000407643.5",
"protein_id": "ENSP00000385316.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 491,
"cds_start": 748,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407643.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu",
"transcript": "ENST00000913081.1",
"protein_id": "ENSP00000583140.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 465,
"cds_start": 844,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913081.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Val250Leu",
"transcript": "ENST00000913084.1",
"protein_id": "ENSP00000583143.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 460,
"cds_start": 748,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913084.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Val111Leu",
"transcript": "ENST00000403167.5",
"protein_id": "ENSP00000385015.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 352,
"cds_start": 331,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403167.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.124-6131G>T",
"hgvs_p": null,
"transcript": "ENST00000913089.1",
"protein_id": "ENSP00000583148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913089.1"
},
{
"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": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "n.705G>T",
"hgvs_p": null,
"transcript": "ENST00000477439.1",
"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": 731,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477439.1"
}
],
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"dbsnp": "rs1342683025",
"frequency_reference_population": 0.0000037175919,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205234,
"gnomad_genomes_af": 0.0000197109,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36395978927612305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.3422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.829,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025250.3",
"gene_symbol": "TTYH3",
"hgnc_id": 22222,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Val282Leu"
}
],
"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
}