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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: 17-6620831-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6620831&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6620831,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000361413.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "NM_014804.3",
"protein_id": "NP_055619.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 967,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": "ENST00000361413.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "ENST00000361413.8",
"protein_id": "ENSP00000355250.3",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 967,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": "NM_014804.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.374delC",
"hgvs_p": "p.Pro125fs",
"transcript": "NM_001351225.2",
"protein_id": "NP_001338154.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 668,
"cds_start": 374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.374delC",
"hgvs_p": "p.Pro125fs",
"transcript": "ENST00000572370.5",
"protein_id": "ENSP00000460050.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 668,
"cds_start": 374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_011524090.4",
"protein_id": "XP_011522392.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 989,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_011524091.3",
"protein_id": "XP_011522393.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 989,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_011524095.3",
"protein_id": "XP_011522397.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 989,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_017025455.3",
"protein_id": "XP_016880944.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 989,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_011524096.3",
"protein_id": "XP_011522398.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 955,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_047437193.1",
"protein_id": "XP_047293149.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 933,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs",
"transcript": "XM_047437194.1",
"protein_id": "XP_047293150.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 847,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.374delC",
"hgvs_p": "p.Pro125fs",
"transcript": "XM_011524099.3",
"protein_id": "XP_011522401.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 690,
"cds_start": 374,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.374delC",
"hgvs_p": "p.Pro125fs",
"transcript": "XM_011524100.4",
"protein_id": "XP_011522402.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 690,
"cds_start": 374,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.74delC",
"hgvs_p": null,
"transcript": "ENST00000542826.6",
"protein_id": "ENSP00000444946.3",
"transcript_support_level": 2,
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*417delC",
"hgvs_p": null,
"transcript": "ENST00000570790.5",
"protein_id": "ENSP00000460816.1",
"transcript_support_level": 2,
"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": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.1307delC",
"hgvs_p": null,
"transcript": "NR_147086.2",
"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,
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"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.1644delC",
"hgvs_p": null,
"transcript": "NR_147087.2",
"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": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.1751delC",
"hgvs_p": null,
"transcript": "NR_147088.2",
"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": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "c.-132delC",
"hgvs_p": null,
"transcript": "XM_047437195.1",
"protein_id": "XP_047293151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282936",
"gene_hgnc_id": null,
"hgvs_c": "c.*2221delC",
"hgvs_p": null,
"transcript": "ENST00000634965.3",
"protein_id": "ENSP00000499350.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*417delC",
"hgvs_p": null,
"transcript": "ENST00000570790.5",
"protein_id": "ENSP00000460816.1",
"transcript_support_level": 2,
"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": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"hgvs_c": "n.*739delC",
"hgvs_p": null,
"transcript": "ENST00000572235.1",
"protein_id": "ENSP00000459530.1",
"transcript_support_level": 3,
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIAA0753",
"gene_hgnc_id": 29110,
"dbsnp": "rs1555531363",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.057,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361413.8",
"gene_symbol": "KIAA0753",
"hgnc_id": 29110,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271delC",
"hgvs_p": "p.Pro424fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634965.3",
"gene_symbol": "ENSG00000282936",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2221delC",
"hgvs_p": null
}
],
"clinvar_disease": "Jeune thoracic dystrophy,Joubert syndrome,Short-rib thoracic dysplasia 21 without polydactyly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Jeune thoracic dystrophy;Joubert syndrome|Short-rib thoracic dysplasia 21 without polydactyly",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}