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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: 7-105563910-GAAGTTA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105563910&ref=GAAGTTA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 105563910,
"ref": "GAAGTTA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000257700.7",
"consequences": [
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1853_1858delTTAAAG",
"hgvs_p": "p.Val618_Lys619del",
"transcript": "NM_021930.6",
"protein_id": "NP_068749.3",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 792,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "ENST00000257700.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1853_1858delTTAAAG",
"hgvs_p": "p.Val618_Lys619del",
"transcript": "ENST00000257700.7",
"protein_id": "ENSP00000257700.2",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 792,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "NM_021930.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1619_1624delTTAAAG",
"hgvs_p": "p.Val540_Lys541del",
"transcript": "NM_001346599.2",
"protein_id": "NP_001333528.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 714,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.929_934delTTAAAG",
"hgvs_p": "p.Val310_Lys311del",
"transcript": "NM_001346601.2",
"protein_id": "NP_001333530.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 484,
"cds_start": 929,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.830_835delTTAAAG",
"hgvs_p": "p.Val277_Lys278del",
"transcript": "NM_001346600.2",
"protein_id": "NP_001333529.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 451,
"cds_start": 830,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.830_835delTTAAAG",
"hgvs_p": "p.Val277_Lys278del",
"transcript": "NM_001346603.2",
"protein_id": "NP_001333532.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 451,
"cds_start": 830,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1430_1435delTTAAAG",
"hgvs_p": "p.Val477_Lys478del",
"transcript": "XM_047420686.1",
"protein_id": "XP_047276642.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 651,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.929_934delTTAAAG",
"hgvs_p": "p.Val310_Lys311del",
"transcript": "XM_047420687.1",
"protein_id": "XP_047276643.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 484,
"cds_start": 929,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.830_835delTTAAAG",
"hgvs_p": "p.Val277_Lys278del",
"transcript": "XM_005250524.5",
"protein_id": "XP_005250581.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 451,
"cds_start": 830,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VKD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.830_835delTTAAAG",
"hgvs_p": "p.Val277_Lys278del",
"transcript": "XM_011516458.4",
"protein_id": "XP_011514760.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 451,
"cds_start": 830,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*1458_*1463delTTAAAG",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.1768_1773delTTAAAG",
"hgvs_p": null,
"transcript": "NR_144478.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*1458_*1463delTTAAAG",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"dbsnp": "rs1554367227",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.552,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257700.7",
"gene_symbol": "RINT1",
"hgnc_id": 21876,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1853_1858delTTAAAG",
"hgvs_p": "p.Val618_Lys619del"
}
],
"clinvar_disease": "Infantile liver failure syndrome 3,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided|Infantile liver failure syndrome 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}