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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: 1-77917962-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77917962&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77917962,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_144573.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "NM_144573.4",
"protein_id": "NP_653174.3",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 675,
"cds_start": 222,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334785.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144573.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000334785.12",
"protein_id": "ENSP00000333938.7",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 675,
"cds_start": 222,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144573.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334785.12"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "ENST00000401035.7",
"protein_id": "ENSP00000383814.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 320,
"cds_start": 30,
"cds_end": null,
"cds_length": 964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401035.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000951152.1",
"protein_id": "ENSP00000621211.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 675,
"cds_start": 222,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951152.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "NM_001172309.2",
"protein_id": "NP_001165780.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 611,
"cds_start": 30,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172309.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "ENST00000330010.12",
"protein_id": "ENSP00000327363.8",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 611,
"cds_start": 30,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330010.12"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000902269.1",
"protein_id": "ENSP00000572328.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 609,
"cds_start": 222,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902269.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "ENST00000927424.1",
"protein_id": "ENSP00000597483.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 597,
"cds_start": 30,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927424.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "ENST00000902267.1",
"protein_id": "ENSP00000572326.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 545,
"cds_start": 30,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902267.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000851033.1",
"protein_id": "ENSP00000521102.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 537,
"cds_start": 222,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851033.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "ENST00000902268.1",
"protein_id": "ENSP00000572327.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 523,
"cds_start": 30,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902268.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000440324.5",
"protein_id": "ENSP00000411902.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 434,
"cds_start": 222,
"cds_end": null,
"cds_length": 1306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440324.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "XM_005271322.5",
"protein_id": "XP_005271379.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 676,
"cds_start": 222,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271322.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "XM_005271323.5",
"protein_id": "XP_005271380.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 662,
"cds_start": 222,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271323.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.30T>C",
"hgvs_p": "p.Ile10Ile",
"transcript": "XM_005271324.6",
"protein_id": "XP_005271381.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 612,
"cds_start": 30,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271324.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "XM_005271325.5",
"protein_id": "XP_005271382.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 602,
"cds_start": 222,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271325.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "XM_005271327.5",
"protein_id": "XP_005271384.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 537,
"cds_start": 222,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271327.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"hgvs_c": "c.-168T>C",
"hgvs_p": null,
"transcript": "ENST00000342754.5",
"protein_id": "ENSP00000343928.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342754.5"
}
],
"gene_symbol": "NEXN",
"gene_hgnc_id": 29557,
"dbsnp": "rs767610015",
"frequency_reference_population": 0.000043451433,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000438728,
"gnomad_genomes_af": 0.0000394135,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"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": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.246,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_144573.4",
"gene_symbol": "NEXN",
"hgnc_id": 29557,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.222T>C",
"hgvs_p": "p.Ile74Ile"
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1CC,Hypertrophic cardiomyopathy 20,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Hypertrophic cardiomyopathy 20;Dilated cardiomyopathy 1CC|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}