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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: 14-51720148-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=51720148&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 51720148,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000344768.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "NM_001267046.2",
"protein_id": "NP_001253975.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": "ENST00000344768.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "ENST00000344768.10",
"protein_id": "ENSP00000343899.6",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": "NM_001267046.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ala365Val",
"transcript": "ENST00000356218.8",
"protein_id": "ENSP00000348550.4",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 614,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ala365Val",
"transcript": "ENST00000395718.6",
"protein_id": "ENSP00000379068.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 614,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000553556.2",
"protein_id": "ENSP00000452529.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 264,
"cds_start": 44,
"cds_end": null,
"cds_length": 795,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1679,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "n.1947C>T",
"hgvs_p": null,
"transcript": "ENST00000557522.1",
"protein_id": null,
"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": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ala365Val",
"transcript": "NM_001042481.3",
"protein_id": "NP_001035946.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 614,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 5045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ala365Val",
"transcript": "NM_152330.4",
"protein_id": "NP_689543.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 614,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "NM_001267047.1",
"protein_id": "NP_001253976.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 264,
"cds_start": 44,
"cds_end": null,
"cds_length": 795,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ala103Val",
"transcript": "ENST00000555197.1",
"protein_id": "ENSP00000451157.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 205,
"cds_start": 308,
"cds_end": null,
"cds_length": 618,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Ala15Val",
"transcript": "ENST00000555703.4",
"protein_id": "ENSP00000450735.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 142,
"cds_start": 44,
"cds_end": null,
"cds_length": 429,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_006720029.2",
"protein_id": "XP_006720092.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_011536424.2",
"protein_id": "XP_011534726.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_024449473.2",
"protein_id": "XP_024305241.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_024449474.2",
"protein_id": "XP_024305242.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_024449475.2",
"protein_id": "XP_024305243.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430920.1",
"protein_id": "XP_047286876.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430921.1",
"protein_id": "XP_047286877.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430922.1",
"protein_id": "XP_047286878.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430923.1",
"protein_id": "XP_047286879.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 6415,
"cdna_end": null,
"cdna_length": 9864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430925.1",
"protein_id": "XP_047286881.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 5257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047430926.1",
"protein_id": "XP_047286882.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 622,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
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