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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: 18-691266-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=691266&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 691266,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000647584.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "NM_017512.7",
"protein_id": "NP_059982.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 443,
"cds_start": 434,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": "ENST00000647584.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "ENST00000647584.2",
"protein_id": "ENSP00000497230.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 443,
"cds_start": 434,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": "NM_017512.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.188T>A",
"hgvs_p": "p.Met63Lys",
"transcript": "ENST00000383578.7",
"protein_id": "ENSP00000373072.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 361,
"cds_start": 188,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.424-521T>A",
"hgvs_p": null,
"transcript": "ENST00000581475.5",
"protein_id": "ENSP00000464614.1",
"transcript_support_level": 1,
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_047437618.1",
"protein_id": "XP_047293574.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 299,
"cds_start": 2,
"cds_end": null,
"cds_length": 900,
"cdna_start": 61,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "NM_001354067.2",
"protein_id": "NP_001340996.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 491,
"cds_start": 578,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "NM_202758.5",
"protein_id": "NP_974487.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 477,
"cds_start": 578,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "ENST00000340116.12",
"protein_id": "ENSP00000345974.8",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 477,
"cds_start": 578,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "NM_001439136.1",
"protein_id": "NP_001426065.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 448,
"cds_start": 434,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "NM_001354066.2",
"protein_id": "NP_001340995.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 429,
"cds_start": 434,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.188T>A",
"hgvs_p": "p.Met63Lys",
"transcript": "NM_001354065.2",
"protein_id": "NP_001340994.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 361,
"cds_start": 188,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.128T>A",
"hgvs_p": "p.Met43Lys",
"transcript": "ENST00000583771.1",
"protein_id": "ENSP00000473632.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 97,
"cds_start": 128,
"cds_end": null,
"cds_length": 294,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "XM_024451202.2",
"protein_id": "XP_024306970.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 478,
"cds_start": 578,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "XM_024451203.2",
"protein_id": "XP_024306971.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 435,
"cds_start": 434,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.434T>A",
"hgvs_p": "p.Met145Lys",
"transcript": "XM_047437612.1",
"protein_id": "XP_047293568.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 430,
"cds_start": 434,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "XM_047437615.1",
"protein_id": "XP_047293571.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 377,
"cds_start": 578,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "XM_047437616.1",
"protein_id": "XP_047293572.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 372,
"cds_start": 578,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.209T>A",
"hgvs_p": "p.Met70Lys",
"transcript": "XM_024451208.2",
"protein_id": "XP_024306976.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 368,
"cds_start": 209,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.188T>A",
"hgvs_p": "p.Met63Lys",
"transcript": "XM_024451210.2",
"protein_id": "XP_024306978.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 366,
"cds_start": 188,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 5261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "XM_047437619.1",
"protein_id": "XP_047293575.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 308,
"cds_start": 578,
"cds_end": null,
"cds_length": 927,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Met193Lys",
"transcript": "XM_047437622.1",
"protein_id": "XP_047293578.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 257,
"cds_start": 578,
"cds_end": null,
"cds_length": 774,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.458T>A",
"hgvs_p": null,
"transcript": "ENST00000578651.5",
"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": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.561T>A",
"hgvs_p": null,
"transcript": "ENST00000579053.5",
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}