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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: 6-109777048-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109777048&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109777048,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000230124.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "NM_014845.6",
"protein_id": "NP_055660.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 907,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000230124.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000230124.8",
"protein_id": "ENSP00000230124.4",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 907,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_014845.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Pro632Leu",
"transcript": "ENST00000674884.1",
"protein_id": "ENSP00000502668.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 913,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Pro624Leu",
"transcript": "ENST00000674744.1",
"protein_id": "ENSP00000501661.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 905,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000675726.1",
"protein_id": "ENSP00000502452.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 878,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000675772.1",
"protein_id": "ENSP00000501678.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 864,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1748C>T",
"hgvs_p": "p.Pro583Leu",
"transcript": "ENST00000676442.1",
"protein_id": "ENSP00000502595.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 864,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000675284.1",
"protein_id": "ENSP00000502758.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 849,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000675096.1",
"protein_id": "ENSP00000502116.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 838,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1646C>T",
"hgvs_p": "p.Pro549Leu",
"transcript": "ENST00000675523.1",
"protein_id": "ENSP00000502384.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 830,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Pro626Leu",
"transcript": "ENST00000675714.1",
"protein_id": "ENSP00000502561.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 816,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1646C>T",
"hgvs_p": "p.Pro549Leu",
"transcript": "ENST00000674933.1",
"protein_id": "ENSP00000502376.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 801,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Pro511Leu",
"transcript": "ENST00000674641.1",
"protein_id": "ENSP00000501609.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 792,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1484C>T",
"hgvs_p": "p.Pro495Leu",
"transcript": "ENST00000675831.1",
"protein_id": "ENSP00000502382.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 776,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Pro316Leu",
"transcript": "ENST00000674644.1",
"protein_id": "ENSP00000502201.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 489,
"cds_start": 947,
"cds_end": null,
"cds_length": 1471,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "ENST00000415980.2",
"protein_id": "ENSP00000405660.2",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 409,
"cds_start": 383,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "XM_011536281.4",
"protein_id": "XP_011534583.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 886,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3640,
"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": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.5073C>T",
"hgvs_p": null,
"transcript": "ENST00000674532.1",
"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": 6030,
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*996C>T",
"hgvs_p": null,
"transcript": "ENST00000674569.1",
"protein_id": "ENSP00000502769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2781,
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*996C>T",
"hgvs_p": null,
"transcript": "ENST00000674571.1",
"protein_id": "ENSP00000501633.1",
"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,
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"cdna_length": 2778,
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*996C>T",
"hgvs_p": null,
"transcript": "ENST00000674575.1",
"protein_id": "ENSP00000502276.1",
"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": 2685,
"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": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1570C>T",
"hgvs_p": null,
"transcript": "ENST00000674649.1",
"protein_id": "ENSP00000501669.1",
"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": 2811,
"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": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1309C>T",
"hgvs_p": null,
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"phenotype_combined": "Charcot-Marie-Tooth disease type 4|Inborn genetic diseases|not provided",
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}
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}