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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: 3-158123868-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158123868&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158123868,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016625.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "NM_001271838.2",
"protein_id": "NP_001258767.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611884.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271838.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000611884.5",
"protein_id": "ENSP00000481697.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001271838.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611884.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000295930.7",
"protein_id": "ENSP00000295930.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295930.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000312179.10",
"protein_id": "ENSP00000308671.6",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 276,
"cds_start": 197,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312179.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000881665.1",
"protein_id": "ENSP00000551724.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 396,
"cds_start": 197,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881665.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000936761.1",
"protein_id": "ENSP00000606820.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 396,
"cds_start": 197,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936761.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000948234.1",
"protein_id": "ENSP00000618293.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 366,
"cds_start": 197,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948234.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000683899.1",
"protein_id": "ENSP00000507514.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 342,
"cds_start": 197,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683899.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000476899.6",
"protein_id": "ENSP00000419394.2",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 336,
"cds_start": 197,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476899.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000936759.1",
"protein_id": "ENSP00000606818.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 336,
"cds_start": 197,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936759.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000948232.1",
"protein_id": "ENSP00000618291.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 336,
"cds_start": 197,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948232.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "NM_016625.4",
"protein_id": "NP_057709.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016625.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000480820.5",
"protein_id": "ENSP00000420150.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480820.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000881664.1",
"protein_id": "ENSP00000551723.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881664.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000881666.1",
"protein_id": "ENSP00000551725.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881666.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000948233.1",
"protein_id": "ENSP00000618292.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 334,
"cds_start": 197,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948233.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000482822.3",
"protein_id": "ENSP00000420464.3",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 314,
"cds_start": 197,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482822.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000683137.1",
"protein_id": "ENSP00000507909.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 314,
"cds_start": 197,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683137.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000682164.1",
"protein_id": "ENSP00000508394.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 311,
"cds_start": 197,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682164.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000475278.6",
"protein_id": "ENSP00000417816.2",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 283,
"cds_start": 197,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475278.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "NM_001271834.2",
"protein_id": "NP_001258763.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 276,
"cds_start": 197,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271834.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
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"spliceai_max_score": 0.03,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_016625.4",
"gene_symbol": "RSRC1",
"hgnc_id": 24152,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}