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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: 14-75764691-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75764691&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75764691,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_015072.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "NM_015072.5",
"protein_id": "NP_055887.3",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298832.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015072.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000298832.14",
"protein_id": "ENSP00000298832.9",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298832.14"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Glu557*",
"transcript": "ENST00000557636.5",
"protein_id": "ENSP00000450713.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1669,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557636.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Glu94*",
"transcript": "ENST00000556893.5",
"protein_id": "ENSP00000452524.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 817,
"cds_start": 280,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556893.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.154G>T",
"hgvs_p": "p.Glu52*",
"transcript": "ENST00000554510.5",
"protein_id": "ENSP00000451946.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 775,
"cds_start": 154,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554510.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000882579.1",
"protein_id": "ENSP00000552638.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882579.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000882582.1",
"protein_id": "ENSP00000552641.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882582.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000939622.1",
"protein_id": "ENSP00000609681.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939622.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000882580.1",
"protein_id": "ENSP00000552639.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882580.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000939618.1",
"protein_id": "ENSP00000609677.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939618.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1666G>T",
"hgvs_p": "p.Glu556*",
"transcript": "ENST00000939621.1",
"protein_id": "ENSP00000609680.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1666,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939621.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1666G>T",
"hgvs_p": "p.Glu556*",
"transcript": "ENST00000969079.1",
"protein_id": "ENSP00000639138.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1666,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969079.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000939619.1",
"protein_id": "ENSP00000609678.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939619.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000939620.1",
"protein_id": "ENSP00000609679.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939620.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000939617.1",
"protein_id": "ENSP00000609676.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939617.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000969080.1",
"protein_id": "ENSP00000639139.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1228,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969080.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000882581.1",
"protein_id": "ENSP00000552640.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882581.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*",
"transcript": "ENST00000882583.1",
"protein_id": "ENSP00000552642.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.933G>T",
"hgvs_p": null,
"transcript": "ENST00000555422.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000555422.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.361G>T",
"hgvs_p": null,
"transcript": "ENST00000556976.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556976.1"
}
],
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"dbsnp": "rs199882533",
"frequency_reference_population": 0.0000024782994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205222,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.084,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015072.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Glu543*"
}
],
"clinvar_disease": "Cone-rod dystrophy 19,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Cone-rod dystrophy 19|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}