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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: 15-78932375-GGACA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78932375&ref=GGACA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78932375,
"ref": "GGACA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_004390.5",
"consequences": [
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "NM_004390.5",
"protein_id": "NP_004381.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 335,
"cds_start": 485,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": "ENST00000220166.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "ENST00000220166.10",
"protein_id": "ENSP00000220166.6",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 335,
"cds_start": 485,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": "NM_004390.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "ENST00000615999.5",
"protein_id": "ENSP00000483303.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 358,
"cds_start": 485,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1286,
"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": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.533_536delTGTC",
"hgvs_p": null,
"transcript": "ENST00000527715.6",
"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": 3693,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*434_*437delTGTC",
"hgvs_p": null,
"transcript": "ENST00000533777.5",
"protein_id": "ENSP00000431879.1",
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*434_*437delTGTC",
"hgvs_p": null,
"transcript": "ENST00000533777.5",
"protein_id": "ENSP00000431879.1",
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.648_651delTGTC",
"hgvs_p": "p.Val217fs",
"transcript": "ENST00000677534.1",
"protein_id": "ENSP00000503261.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 446,
"cds_start": 648,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "ENST00000676880.1",
"protein_id": "ENSP00000504341.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 367,
"cds_start": 485,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "ENST00000677936.1",
"protein_id": "ENSP00000502988.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 311,
"cds_start": 485,
"cds_end": null,
"cds_length": 936,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.371_374delTGTC",
"hgvs_p": "p.Leu124fs",
"transcript": "NM_001411095.1",
"protein_id": "NP_001398024.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 297,
"cds_start": 371,
"cds_end": null,
"cds_length": 894,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.371_374delTGTC",
"hgvs_p": "p.Leu124fs",
"transcript": "ENST00000528741.6",
"protein_id": "ENSP00000435329.2",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 297,
"cds_start": 371,
"cds_end": null,
"cds_length": 894,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.371_374delTGTC",
"hgvs_p": "p.Leu124fs",
"transcript": "ENST00000677316.1",
"protein_id": "ENSP00000504051.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 297,
"cds_start": 371,
"cds_end": null,
"cds_length": 894,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.485_488delTGTC",
"hgvs_p": "p.Leu162fs",
"transcript": "ENST00000677810.1",
"protein_id": "ENSP00000503585.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 293,
"cds_start": 485,
"cds_end": null,
"cds_length": 882,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.257_260delTGTC",
"hgvs_p": "p.Leu86fs",
"transcript": "ENST00000677011.1",
"protein_id": "ENSP00000504778.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 259,
"cds_start": 257,
"cds_end": null,
"cds_length": 780,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.257_260delTGTC",
"hgvs_p": "p.Leu86fs",
"transcript": "ENST00000678644.1",
"protein_id": "ENSP00000503269.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 259,
"cds_start": 257,
"cds_end": null,
"cds_length": 780,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.233_236delTGTC",
"hgvs_p": "p.Leu78fs",
"transcript": "ENST00000677207.1",
"protein_id": "ENSP00000504828.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 251,
"cds_start": 233,
"cds_end": null,
"cds_length": 756,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.431_434delTGTC",
"hgvs_p": "p.Leu144fs",
"transcript": "XM_017021951.2",
"protein_id": "XP_016877440.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 317,
"cds_start": 431,
"cds_end": null,
"cds_length": 954,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2283,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*363_*366delTGTC",
"hgvs_p": null,
"transcript": "ENST00000525807.6",
"protein_id": "ENSP00000432935.2",
"transcript_support_level": 5,
"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": 1386,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.152_155delTGTC",
"hgvs_p": null,
"transcript": "ENST00000527138.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 5163,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.233_236delTGTC",
"hgvs_p": null,
"transcript": "ENST00000528191.6",
"protein_id": "ENSP00000503084.1",
"transcript_support_level": 4,
"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": 1458,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.654_657delTGTC",
"hgvs_p": null,
"transcript": "ENST00000529263.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 865,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.3045_3048delTGTC",
"hgvs_p": null,
"transcript": "ENST00000529612.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 7215,
"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": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*472_*475delTGTC",
"hgvs_p": null,
"transcript": "ENST00000529861.6",
"protein_id": "ENSP00000432893.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Variant of unknown significance",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Variant of unknown significance",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}