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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: 6-127719822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127719822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127719822,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001164685.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "NM_001010923.3",
"protein_id": "NP_001010923.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 641,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368248.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010923.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "ENST00000368248.5",
"protein_id": "ENSP00000357231.2",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 641,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010923.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368248.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626His",
"transcript": "ENST00000630369.2",
"protein_id": "ENSP00000487358.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 680,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630369.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626His",
"transcript": "NM_001164685.2",
"protein_id": "NP_001158157.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 680,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164685.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Arg596His",
"transcript": "ENST00000852157.1",
"protein_id": "ENSP00000522216.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 650,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852157.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "ENST00000368250.5",
"protein_id": "ENSP00000357233.2",
"transcript_support_level": 5,
"aa_start": 587,
"aa_end": null,
"aa_length": 641,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368250.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"transcript": "NM_001394520.1",
"protein_id": "NP_001381449.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 615,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394520.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His",
"transcript": "NM_001164687.2",
"protein_id": "NP_001158159.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 606,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164687.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His",
"transcript": "ENST00000537166.5",
"protein_id": "ENSP00000439863.1",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 606,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537166.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508His",
"transcript": "ENST00000626040.2",
"protein_id": "ENSP00000486494.1",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 562,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626040.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"transcript": "NM_001318531.1",
"protein_id": "NP_001305460.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 544,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318531.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"transcript": "NM_001394522.1",
"protein_id": "NP_001381451.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 544,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394522.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434His",
"transcript": "NM_001394521.1",
"protein_id": "NP_001381450.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 488,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394521.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Arg596His",
"transcript": "XM_047418764.1",
"protein_id": "XP_047274720.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 650,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418764.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "XM_047418766.1",
"protein_id": "XP_047274722.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 641,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418766.1"
}
],
"gene_symbol": "THEMIS",
"gene_hgnc_id": 21569,
"dbsnp": "rs746600803",
"frequency_reference_population": 0.000047796282,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.000045922,
"gnomad_genomes_af": 0.000065786,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07817599177360535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.04600000008940697,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.523,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00070143702661763,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001164685.2",
"gene_symbol": "THEMIS",
"hgnc_id": 21569,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626His"
}
],
"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
}