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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: 17-48801263-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48801263&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48801263,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000393382.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.603T>C",
"hgvs_p": "p.Leu201Leu",
"transcript": "NM_001130918.3",
"protein_id": "NP_001124390.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 891,
"cds_start": 603,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "ENST00000393382.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.603T>C",
"hgvs_p": "p.Leu201Leu",
"transcript": "ENST00000393382.8",
"protein_id": "ENSP00000377043.3",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 891,
"cds_start": 603,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "NM_001130918.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"transcript": "ENST00000376681.7",
"protein_id": "ENSP00000365871.4",
"transcript_support_level": 1,
"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": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "n.1427T>C",
"hgvs_p": null,
"transcript": "ENST00000490027.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"transcript": "ENST00000376681.7",
"protein_id": "ENSP00000365871.4",
"transcript_support_level": 1,
"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": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.144T>C",
"hgvs_p": "p.Leu48Leu",
"transcript": "NM_001366314.2",
"protein_id": "NP_001353243.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 560,
"cds_start": 144,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.600T>C",
"hgvs_p": "p.Leu200Leu",
"transcript": "XM_017024491.3",
"protein_id": "XP_016879980.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 890,
"cds_start": 600,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.144T>C",
"hgvs_p": "p.Leu48Leu",
"transcript": "XM_017024492.2",
"protein_id": "XP_016879981.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 738,
"cds_start": 144,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.144T>C",
"hgvs_p": "p.Leu48Leu",
"transcript": "XM_017024493.3",
"protein_id": "XP_016879982.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 738,
"cds_start": 144,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.144T>C",
"hgvs_p": "p.Leu48Leu",
"transcript": "XM_047435803.1",
"protein_id": "XP_047291759.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 738,
"cds_start": 144,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.144T>C",
"hgvs_p": "p.Leu48Leu",
"transcript": "XM_047435804.1",
"protein_id": "XP_047291760.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 738,
"cds_start": 144,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "n.338T>C",
"hgvs_p": null,
"transcript": "ENST00000509809.1",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.-346T>C",
"hgvs_p": null,
"transcript": "XM_017024495.3",
"protein_id": "XP_016879984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"hgvs_c": "c.-165T>C",
"hgvs_p": null,
"transcript": "XM_047435805.1",
"protein_id": "XP_047291761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTLL6",
"gene_hgnc_id": 26664,
"dbsnp": "rs17634167",
"frequency_reference_population": 0.116447486,
"hom_count_reference_population": 11502,
"allele_count_reference_population": 180638,
"gnomad_exomes_af": 0.11882,
"gnomad_genomes_af": 0.0946408,
"gnomad_exomes_ac": 166235,
"gnomad_genomes_ac": 14403,
"gnomad_exomes_homalt": 10630,
"gnomad_genomes_homalt": 872,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000393382.8",
"gene_symbol": "TTLL6",
"hgnc_id": 26664,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.603T>C",
"hgvs_p": "p.Leu201Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}