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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: 17-2676507-TAAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2676507&ref=TAAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2676507,
"ref": "TAAAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000397195.10",
"consequences": [
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "NM_000430.4",
"protein_id": "NP_000421.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "ENST00000397195.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000397195.10",
"protein_id": "ENSP00000380378.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "NM_000430.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.676+2415_676+2418delAAAA",
"hgvs_p": null,
"transcript": "ENST00000572915.6",
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.961_964delAAAA",
"hgvs_p": "p.Lys321fs",
"transcript": "ENST00000674608.1",
"protein_id": "ENSP00000501976.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 428,
"cds_start": 961,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000576586.6",
"protein_id": "ENSP00000461087.2",
"transcript_support_level": 4,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000675202.1",
"protein_id": "ENSP00000502843.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000675331.1",
"protein_id": "ENSP00000502031.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000675390.1",
"protein_id": "ENSP00000501969.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000676098.1",
"protein_id": "ENSP00000502735.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000676188.1",
"protein_id": "ENSP00000502577.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000713986.1",
"protein_id": "ENSP00000519277.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "ENST00000713987.1",
"protein_id": "ENSP00000519278.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.715_718delAAAA",
"hgvs_p": "p.Lys239fs",
"transcript": "ENST00000713983.1",
"protein_id": "ENSP00000519274.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 346,
"cds_start": 715,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.712_715delAAAA",
"hgvs_p": "p.Lys238fs",
"transcript": "ENST00000570400.2",
"protein_id": "ENSP00000460258.2",
"transcript_support_level": 3,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.712_715delAAAA",
"hgvs_p": "p.Lys238fs",
"transcript": "ENST00000674717.1",
"protein_id": "ENSP00000501931.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.712_715delAAAA",
"hgvs_p": "p.Lys238fs",
"transcript": "ENST00000676353.1",
"protein_id": "ENSP00000502737.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
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"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.712_715delAAAA",
"hgvs_p": "p.Lys238fs",
"transcript": "ENST00000713690.1",
"protein_id": "ENSP00000518994.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.712_715delAAAA",
"hgvs_p": "p.Lys238fs",
"transcript": "ENST00000713984.1",
"protein_id": "ENSP00000519275.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.961_964delAAAA",
"hgvs_p": "p.Lys321fs",
"transcript": "XM_011523901.3",
"protein_id": "XP_011522203.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 428,
"cds_start": 961,
"cds_end": null,
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"cdna_start": 1504,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.961_964delAAAA",
"hgvs_p": "p.Lys321fs",
"transcript": "XM_011523902.4",
"protein_id": "XP_011522204.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 428,
"cds_start": 961,
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"cdna_start": 1794,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.961_964delAAAA",
"hgvs_p": "p.Lys321fs",
"transcript": "XM_011523903.3",
"protein_id": "XP_011522205.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 428,
"cds_start": 961,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.907_910delAAAA",
"hgvs_p": "p.Lys303fs",
"transcript": "XM_017024701.2",
"protein_id": "XP_016880190.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 410,
"cds_start": 907,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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}