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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: 15-89630353-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89630353&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Leu1084Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_198525.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "TICRR",
"hgnc_id": 28704,
"hgvs_c": "n.*1020G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000561095.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 396,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "15",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Acrocallosal syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "L",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3252,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_198525.3",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Leu1084Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394412.8",
"protein_coding": true,
"protein_id": "NP_940927.2",
"strand": false,
"transcript": "NM_198525.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "L",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3252,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000394412.8",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Leu1084Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198525.3",
"protein_coding": true,
"protein_id": "ENSP00000377934.3",
"strand": false,
"transcript": "ENST00000394412.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561095.1",
"gene_hgnc_id": 28704,
"gene_symbol": "TICRR",
"hgvs_c": "n.*1020G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453922.1",
"strand": true,
"transcript": "ENST00000561095.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561095.1",
"gene_hgnc_id": 28704,
"gene_symbol": "TICRR",
"hgvs_c": "n.*1020G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453922.1",
"strand": true,
"transcript": "ENST00000561095.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "L",
"aa_start": 1125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 4155,
"cds_start": 3375,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000696512.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3375C>T",
"hgvs_p": "p.Leu1125Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512678.1",
"strand": false,
"transcript": "ENST00000696512.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "L",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 3469,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3264,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946200.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3264C>T",
"hgvs_p": "p.Leu1088Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616259.1",
"strand": false,
"transcript": "ENST00000946200.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "L",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 3678,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3252,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896349.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Leu1084Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566408.1",
"strand": false,
"transcript": "ENST00000896349.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 3448,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896344.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566403.1",
"strand": false,
"transcript": "ENST00000896344.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 3521,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000896345.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566404.1",
"strand": false,
"transcript": "ENST00000896345.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896346.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566405.1",
"strand": false,
"transcript": "ENST00000896346.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896348.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566407.1",
"strand": false,
"transcript": "ENST00000896348.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 3331,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000929691.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599750.1",
"strand": false,
"transcript": "ENST00000929691.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 3766,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000929694.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599753.1",
"strand": false,
"transcript": "ENST00000929694.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946199.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616258.1",
"strand": false,
"transcript": "ENST00000946199.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "L",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": 3365,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946201.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Leu1083Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616260.1",
"strand": false,
"transcript": "ENST00000946201.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "L",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 3369,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3246,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896347.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3246C>T",
"hgvs_p": "p.Leu1082Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566406.1",
"strand": false,
"transcript": "ENST00000896347.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "L",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3246,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000929695.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3246C>T",
"hgvs_p": "p.Leu1082Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599754.1",
"strand": false,
"transcript": "ENST00000929695.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "L",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3246,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946205.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3246C>T",
"hgvs_p": "p.Leu1082Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616264.1",
"strand": false,
"transcript": "ENST00000946205.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "L",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 3262,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3240,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946206.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3240C>T",
"hgvs_p": "p.Leu1080Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616265.1",
"strand": false,
"transcript": "ENST00000946206.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1334,
"aa_ref": "L",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 4005,
"cds_start": 3252,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000929693.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3252C>T",
"hgvs_p": "p.Leu1084Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599752.1",
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