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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: 16-4812232-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4812232&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4812232,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032569.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Gly379Ala",
"transcript": "NM_032569.4",
"protein_id": "NP_115958.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 553,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321919.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032569.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Gly379Ala",
"transcript": "ENST00000321919.14",
"protein_id": "ENSP00000322716.6",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 553,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032569.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321919.14"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1118G>C",
"hgvs_p": "p.Gly373Ala",
"transcript": "ENST00000591451.5",
"protein_id": "ENSP00000468328.1",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 547,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591451.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Gly349Ala",
"transcript": "ENST00000589389.5",
"protein_id": "ENSP00000466570.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 523,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589389.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "n.*1176G>C",
"hgvs_p": null,
"transcript": "ENST00000588732.5",
"protein_id": "ENSP00000466127.1",
"transcript_support_level": 1,
"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": "ENST00000588732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "n.*1176G>C",
"hgvs_p": null,
"transcript": "ENST00000588732.5",
"protein_id": "ENSP00000466127.1",
"transcript_support_level": 1,
"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": "ENST00000588732.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1166G>C",
"hgvs_p": "p.Gly389Ala",
"transcript": "ENST00000899199.1",
"protein_id": "ENSP00000569258.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 563,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899199.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Gly378Ala",
"transcript": "ENST00000925081.1",
"protein_id": "ENSP00000595140.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 552,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925081.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Gly379Ala",
"transcript": "ENST00000925088.1",
"protein_id": "ENSP00000595147.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 551,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925088.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1118G>C",
"hgvs_p": "p.Gly373Ala",
"transcript": "NM_001308096.2",
"protein_id": "NP_001295025.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 547,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308096.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1118G>C",
"hgvs_p": "p.Gly373Ala",
"transcript": "ENST00000899200.1",
"protein_id": "ENSP00000569259.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 547,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899200.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1115G>C",
"hgvs_p": "p.Gly372Ala",
"transcript": "ENST00000925082.1",
"protein_id": "ENSP00000595141.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 546,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925082.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1085G>C",
"hgvs_p": "p.Gly362Ala",
"transcript": "NM_001324098.2",
"protein_id": "NP_001311027.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 536,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324098.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Gly379Ala",
"transcript": "ENST00000925087.1",
"protein_id": "ENSP00000595146.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 536,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925087.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Gly356Ala",
"transcript": "ENST00000899196.1",
"protein_id": "ENSP00000569255.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899196.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1034G>C",
"hgvs_p": "p.Gly345Ala",
"transcript": "ENST00000899195.1",
"protein_id": "ENSP00000569254.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 519,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899195.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Gly343Ala",
"transcript": "ENST00000925086.1",
"protein_id": "ENSP00000595145.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 517,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925086.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.1016G>C",
"hgvs_p": "p.Gly339Ala",
"transcript": "ENST00000925084.1",
"protein_id": "ENSP00000595143.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 513,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925084.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"transcript": "ENST00000899201.1",
"protein_id": "ENSP00000569260.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 502,
"cds_start": 983,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899201.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.965G>C",
"hgvs_p": "p.Gly322Ala",
"transcript": "ENST00000925083.1",
"protein_id": "ENSP00000595142.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 496,
"cds_start": 965,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925083.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.893G>C",
"hgvs_p": "p.Gly298Ala",
"transcript": "NM_001324097.2",
"protein_id": "NP_001311026.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 472,
"cds_start": 893,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324097.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLYR1",
"gene_hgnc_id": 24434,
"hgvs_c": "c.893G>C",
"hgvs_p": "p.Gly298Ala",
"transcript": "ENST00000436648.9",
"protein_id": "ENSP00000390276.4",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 472,
"cds_start": 893,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
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}