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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: 10-7563165-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=7563165&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 7563165,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030569.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.Asp916Gly",
"transcript": "NM_030569.7",
"protein_id": "NP_085046.5",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 942,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030569.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.Asp916Gly",
"transcript": "ENST00000397146.7",
"protein_id": "ENSP00000380333.3",
"transcript_support_level": 1,
"aa_start": 916,
"aa_end": null,
"aa_length": 942,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030569.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397146.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asp702Gly",
"transcript": "ENST00000613909.4",
"protein_id": "ENSP00000485414.1",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 728,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613909.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2822A>G",
"hgvs_p": "p.Asp941Gly",
"transcript": "ENST00000884049.1",
"protein_id": "ENSP00000554108.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 967,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884049.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2768A>G",
"hgvs_p": "p.Asp923Gly",
"transcript": "ENST00000884048.1",
"protein_id": "ENSP00000554107.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 949,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884048.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Asp913Gly",
"transcript": "ENST00000884051.1",
"protein_id": "ENSP00000554110.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 939,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884051.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2702A>G",
"hgvs_p": "p.Asp901Gly",
"transcript": "ENST00000884052.1",
"protein_id": "ENSP00000554111.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 927,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884052.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Asp898Gly",
"transcript": "ENST00000884050.1",
"protein_id": "ENSP00000554109.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 924,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884050.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asp896Gly",
"transcript": "ENST00000884056.1",
"protein_id": "ENSP00000554115.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 922,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884056.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2651A>G",
"hgvs_p": "p.Asp884Gly",
"transcript": "ENST00000884055.1",
"protein_id": "ENSP00000554114.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 910,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884055.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Asp877Gly",
"transcript": "ENST00000884054.1",
"protein_id": "ENSP00000554113.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 903,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884054.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2369A>G",
"hgvs_p": "p.Asp790Gly",
"transcript": "ENST00000884053.1",
"protein_id": "ENSP00000554112.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 816,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884053.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asp702Gly",
"transcript": "NM_032817.6",
"protein_id": "NP_116206.4",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 728,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032817.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Asp633Gly",
"transcript": "ENST00000945639.1",
"protein_id": "ENSP00000615698.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 659,
"cds_start": 1898,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945639.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Asp633Gly",
"transcript": "ENST00000945640.1",
"protein_id": "ENSP00000615699.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 659,
"cds_start": 1898,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945640.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"hgvs_c": "c.2822A>G",
"hgvs_p": "p.Asp941Gly",
"transcript": "XM_011519713.4",
"protein_id": "XP_011518015.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 967,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519713.4"
}
],
"gene_symbol": "ITIH5",
"gene_hgnc_id": 21449,
"dbsnp": "rs1479931946",
"frequency_reference_population": 6.841639e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84164e-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": 0.8621626496315002,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3186,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.565,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030569.7",
"gene_symbol": "ITIH5",
"hgnc_id": 21449,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.Asp916Gly"
}
],
"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
}