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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: 19-46746094-A-AGGCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46746094&ref=A&alt=AGGCCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46746094,
"ref": "A",
"alt": "AGGCCG",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.282+50_282+54dupCGGCC",
"hgvs_p": null,
"transcript": "NM_013403.3",
"protein_id": "NP_037535.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "ENST00000263280.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.282+54_282+55insCGGCC",
"hgvs_p": null,
"transcript": "ENST00000263280.11",
"protein_id": "ENSP00000263280.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": "NM_013403.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-253+22_-253+26dupCCGGG",
"hgvs_p": null,
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-253+4_-253+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.282+50_282+54dupCGGCC",
"hgvs_p": null,
"transcript": "NM_001039877.2",
"protein_id": "NP_001034966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.282+54_282+55insCGGCC",
"hgvs_p": null,
"transcript": "ENST00000391910.7",
"protein_id": "ENSP00000375777.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.-76+54_-76+55insCGGCC",
"hgvs_p": null,
"transcript": "ENST00000539396.5",
"protein_id": "ENSP00000440901.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-305+22_-305+26dupCCGGG",
"hgvs_p": null,
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-305+4_-305+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-102+4_-102+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.-76+669_-76+670insCGGCC",
"hgvs_p": null,
"transcript": "ENST00000593979.6",
"protein_id": "ENSP00000471354.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-174+4_-174+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000600005.5",
"protein_id": "ENSP00000470335.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-209+4_-209+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000600227.5",
"protein_id": "ENSP00000468825.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-256+4_-256+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000593800.5",
"protein_id": "ENSP00000471209.1",
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"aa_start": null,
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"cds_start": -4,
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"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": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-163+4_-163+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000602181.5",
"protein_id": "ENSP00000472981.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-305+8_-305+9insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000593875.5",
"protein_id": "ENSP00000470297.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"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": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-325+4_-325+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000600629.5",
"protein_id": "ENSP00000470096.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
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"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STRN4",
"gene_hgnc_id": 15721,
"hgvs_c": "c.-198+707_-198+708insCGGCC",
"hgvs_p": null,
"transcript": "ENST00000596012.2",
"protein_id": "ENSP00000469279.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
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"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-314+4_-314+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000595868.5",
"protein_id": "ENSP00000471573.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-333+4_-333+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000596460.5",
"protein_id": "ENSP00000469373.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-363+4_-363+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000595570.5",
"protein_id": "ENSP00000470929.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": -4,
"cds_end": null,
"cds_length": 184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.-372+4_-372+5insGGCCG",
"hgvs_p": null,
"transcript": "ENST00000597313.5",
"protein_id": "ENSP00000472370.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": -4,
"cds_end": null,
"cds_length": 179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
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],
"gene_symbol": "FKRP",
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"hom_count_reference_population": 8217,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
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"bayesdelnoaf_prediction": null,
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"phylop100way_prediction": "Benign",
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"acmg_score": -10,
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{
"score": -10,
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000318584.10",
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"effects": [
"splice_region_variant",
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},
{
"score": -10,
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"BA1"
],
"verdict": "Benign",
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}