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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: 1-75236989-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75236989&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75236989,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_152697.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "NM_001130058.2",
"protein_id": "NP_001123530.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 717,
"cds_start": 738,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": "ENST00000370859.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130058.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000370859.8",
"protein_id": "ENSP00000359896.3",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 717,
"cds_start": 738,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": "NM_001130058.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370859.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000370855.5",
"protein_id": "ENSP00000359892.5",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370855.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "NM_152697.6",
"protein_id": "NP_689910.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152697.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Leu240Leu",
"transcript": "NM_001320283.3",
"protein_id": "NP_001307212.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 713,
"cds_start": 720,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320283.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.Leu204Leu",
"transcript": "NM_001320285.2",
"protein_id": "NP_001307214.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 675,
"cds_start": 612,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320285.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.Leu204Leu",
"transcript": "NM_001320287.2",
"protein_id": "NP_001307216.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 675,
"cds_start": 612,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320287.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Leu240Leu",
"transcript": "NM_001394064.1",
"protein_id": "NP_001380993.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 653,
"cds_start": 720,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394064.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.759C>G",
"hgvs_p": "p.Leu253Leu",
"transcript": "XM_017000607.2",
"protein_id": "XP_016856096.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 726,
"cds_start": 759,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000607.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.759C>G",
"hgvs_p": "p.Leu253Leu",
"transcript": "XM_017000608.2",
"protein_id": "XP_016856097.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 724,
"cds_start": 759,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000608.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "XM_017000609.2",
"protein_id": "XP_016856098.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000609.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "XM_017000610.2",
"protein_id": "XP_016856099.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000610.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Leu240Leu",
"transcript": "XM_047449166.1",
"protein_id": "XP_047305122.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 711,
"cds_start": 720,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449166.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.Leu204Leu",
"transcript": "XM_006710445.4",
"protein_id": "XP_006710508.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 677,
"cds_start": 612,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710445.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.Leu204Leu",
"transcript": "XM_047449167.1",
"protein_id": "XP_047305123.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 677,
"cds_start": 612,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449167.1"
}
],
"gene_symbol": "SLC44A5",
"gene_hgnc_id": 28524,
"dbsnp": "rs17096508",
"frequency_reference_population": 7.0473556e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.04736e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.286,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0012083267166462,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_152697.6",
"gene_symbol": "SLC44A5",
"hgnc_id": 28524,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Leu246Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}