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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: 3-9944001-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9944001&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9944001,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000452070.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Lys",
"transcript": "ENST00000326434.9",
"protein_id": "ENSP00000321856.5",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 422,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 1994,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-364G>A",
"hgvs_p": null,
"transcript": "NM_001077415.3",
"protein_id": "NP_001070883.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "ENST00000452070.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-364G>A",
"hgvs_p": null,
"transcript": "ENST00000452070.6",
"protein_id": "ENSP00000393643.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "NM_001077415.3",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-364G>A",
"hgvs_p": null,
"transcript": "ENST00000383811.8",
"protein_id": "ENSP00000373322.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*697-364G>A",
"hgvs_p": null,
"transcript": "ENST00000683484.1",
"protein_id": "ENSP00000507040.1",
"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": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Lys",
"transcript": "ENST00000683835.1",
"protein_id": "ENSP00000508148.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 537,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402Lys",
"transcript": "ENST00000683982.1",
"protein_id": "ENSP00000507437.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 441,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Lys",
"transcript": "NM_001374317.1",
"protein_id": "NP_001361246.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 426,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Lys",
"transcript": "NM_001374318.1",
"protein_id": "NP_001361247.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 426,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Lys",
"transcript": "ENST00000684181.1",
"protein_id": "ENSP00000507522.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 426,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Lys",
"transcript": "NM_001031717.4",
"protein_id": "NP_001026887.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 422,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Lys",
"transcript": "ENST00000683189.1",
"protein_id": "ENSP00000508018.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 394,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Lys",
"transcript": "XM_011534108.2",
"protein_id": "XP_011532410.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 426,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Lys",
"transcript": "XM_047448898.1",
"protein_id": "XP_047304854.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 422,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2322,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.1848G>A",
"hgvs_p": null,
"transcript": "ENST00000467713.6",
"protein_id": null,
"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": 2872,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.850G>A",
"hgvs_p": null,
"transcript": "ENST00000482691.2",
"protein_id": null,
"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": 1603,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*722G>A",
"hgvs_p": null,
"transcript": "ENST00000674057.1",
"protein_id": "ENSP00000501128.1",
"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": 1834,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.1685G>A",
"hgvs_p": null,
"transcript": "ENST00000682120.1",
"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": 2698,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1025G>A",
"hgvs_p": null,
"transcript": "ENST00000682200.1",
"protein_id": "ENSP00000508321.1",
"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": 3041,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1223G>A",
"hgvs_p": null,
"transcript": "ENST00000682403.1",
"protein_id": "ENSP00000507865.1",
"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": 2599,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000682771.1",
"protein_id": "ENSP00000507114.1",
"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": 2373,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1306G>A",
"hgvs_p": null,
"transcript": "ENST00000682790.1",
"protein_id": "ENSP00000507904.1",
"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": 3273,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.2236G>A",
"hgvs_p": null,
"transcript": "ENST00000682884.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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{
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{
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}
],
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}