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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: 22-43063840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=43063840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 43063840,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012263.5",
"consequences": [
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "NM_012263.5",
"protein_id": "NP_036395.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266254.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012263.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000266254.12",
"protein_id": "ENSP00000266254.7",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012263.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266254.12"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000331018.8",
"protein_id": "ENSP00000333734.7",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 394,
"cds_start": 720,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331018.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000439248.5",
"protein_id": "ENSP00000401518.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439248.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000439248.5",
"protein_id": "ENSP00000401518.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439248.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903479.1",
"protein_id": "ENSP00000573538.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 426,
"cds_start": 720,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903479.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903474.1",
"protein_id": "ENSP00000573533.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903474.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903475.1",
"protein_id": "ENSP00000573534.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903475.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903476.1",
"protein_id": "ENSP00000573535.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903476.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903477.1",
"protein_id": "ENSP00000573536.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903477.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903480.1",
"protein_id": "ENSP00000573539.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903480.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000903481.1",
"protein_id": "ENSP00000573540.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903481.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000947941.1",
"protein_id": "ENSP00000618000.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947941.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000947942.1",
"protein_id": "ENSP00000618001.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 423,
"cds_start": 720,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947942.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu",
"transcript": "ENST00000947943.1",
"protein_id": "ENSP00000618002.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 422,
"cds_start": 720,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947943.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Leu195Leu",
"transcript": "ENST00000903478.1",
"protein_id": "ENSP00000573537.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 378,
"cds_start": 585,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "n.*612C>T",
"hgvs_p": null,
"transcript": "ENST00000440761.1",
"protein_id": "ENSP00000403332.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000440761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "n.1028C>T",
"hgvs_p": null,
"transcript": "NR_027779.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027779.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"hgvs_c": "n.*612C>T",
"hgvs_p": null,
"transcript": "ENST00000440761.1",
"protein_id": "ENSP00000403332.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000440761.1"
}
],
"gene_symbol": "TTLL1",
"gene_hgnc_id": 1312,
"dbsnp": "rs1052160",
"frequency_reference_population": 0.2677967,
"hom_count_reference_population": 61885,
"allele_count_reference_population": 432113,
"gnomad_exomes_af": 0.272405,
"gnomad_genomes_af": 0.223539,
"gnomad_exomes_ac": 398098,
"gnomad_genomes_ac": 34015,
"gnomad_exomes_homalt": 57412,
"gnomad_genomes_homalt": 4473,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.023000000044703484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.445,
"phylop100way_prediction": "Benign",
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012263.5",
"gene_symbol": "TTLL1",
"hgnc_id": 1312,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Leu240Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}