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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: 1-202428903-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202428903&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202428903,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001331029.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "NM_002481.4",
"protein_id": "NP_002472.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 982,
"cds_start": 895,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000608999.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002481.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000608999.6",
"protein_id": "ENSP00000476755.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 982,
"cds_start": 895,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002481.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608999.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000480184.5",
"protein_id": "ENSP00000417159.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 515,
"cds_start": 895,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480184.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000356764.6",
"protein_id": "ENSP00000349206.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 386,
"cds_start": 895,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356764.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "NM_001331029.2",
"protein_id": "NP_001317958.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1043,
"cds_start": 895,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331029.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000391959.5",
"protein_id": "ENSP00000375821.5",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 1043,
"cds_start": 895,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391959.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000969198.1",
"protein_id": "ENSP00000639257.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1042,
"cds_start": 895,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969198.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "NM_001410283.1",
"protein_id": "NP_001397212.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 998,
"cds_start": 895,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410283.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000704899.1",
"protein_id": "ENSP00000516058.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 998,
"cds_start": 895,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704899.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "ENST00000969199.1",
"protein_id": "ENSP00000639258.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 981,
"cds_start": 895,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969199.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Glu297*",
"transcript": "ENST00000969200.1",
"protein_id": "ENSP00000639259.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 979,
"cds_start": 889,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969200.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "NM_001167857.2",
"protein_id": "NP_001161329.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 515,
"cds_start": 895,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167857.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "NM_001167858.2",
"protein_id": "NP_001161330.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 386,
"cds_start": 895,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167858.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Glu94*",
"transcript": "ENST00000466968.1",
"protein_id": "ENSP00000417975.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 210,
"cds_start": 280,
"cds_end": null,
"cds_length": 634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466968.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "XM_017001342.2",
"protein_id": "XP_016856831.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1059,
"cds_start": 895,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001342.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "XM_017001343.2",
"protein_id": "XP_016856832.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1058,
"cds_start": 895,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001343.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "XM_017001345.2",
"protein_id": "XP_016856834.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1042,
"cds_start": 895,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001345.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "XM_047421209.1",
"protein_id": "XP_047277165.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 896,
"cds_start": 895,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421209.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.391G>T",
"hgvs_p": "p.Glu131*",
"transcript": "XM_047421210.1",
"protein_id": "XP_047277166.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 891,
"cds_start": 391,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421210.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Glu299*",
"transcript": "XM_005245206.5",
"protein_id": "XP_005245263.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 560,
"cds_start": 895,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245206.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.*347G>T",
"hgvs_p": null,
"transcript": "ENST00000476364.5",
"protein_id": "ENSP00000417814.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476364.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.369G>T",
"hgvs_p": null,
"transcript": "ENST00000488330.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}
],
"message": null
}