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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: 5-112827130-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112827130&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112827130,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000257430.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "NM_000038.6",
"protein_id": "NP_000029.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "ENST00000257430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "ENST00000257430.9",
"protein_id": "ENSP00000257430.4",
"transcript_support_level": 5,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "NM_000038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "ENST00000508376.6",
"protein_id": "ENSP00000427089.2",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 10619,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.1489delT",
"hgvs_p": null,
"transcript": "ENST00000505084.2",
"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": 3780,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*755delT",
"hgvs_p": null,
"transcript": "ENST00000508624.5",
"protein_id": "ENSP00000424265.1",
"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": 7406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*755delT",
"hgvs_p": null,
"transcript": "ENST00000508624.5",
"protein_id": "ENSP00000424265.1",
"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": 7406,
"mane_select": null,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.1408+5141delT",
"hgvs_p": null,
"transcript": "ENST00000502371.3",
"protein_id": "ENSP00000484935.2",
"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": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1517delT",
"hgvs_p": "p.Leu506fs",
"transcript": "NM_001407446.1",
"protein_id": "NP_001394375.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 2871,
"cds_start": 1517,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 10949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1487delT",
"hgvs_p": "p.Leu496fs",
"transcript": "NM_001354896.2",
"protein_id": "NP_001341825.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1487,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 10758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1487delT",
"hgvs_p": "p.Leu496fs",
"transcript": "NM_001407447.1",
"protein_id": "NP_001394376.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1487,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1487delT",
"hgvs_p": "p.Leu496fs",
"transcript": "NM_001407448.1",
"protein_id": "NP_001394377.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1487,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1487delT",
"hgvs_p": "p.Leu496fs",
"transcript": "NM_001407449.1",
"protein_id": "NP_001394378.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1487,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 10866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1487delT",
"hgvs_p": "p.Leu496fs",
"transcript": "ENST00000504915.3",
"protein_id": "ENSP00000473355.2",
"transcript_support_level": 5,
"aa_start": 496,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1487,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1463delT",
"hgvs_p": "p.Leu488fs",
"transcript": "NM_001354897.2",
"protein_id": "NP_001341826.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 2853,
"cds_start": 1463,
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"cds_length": 8562,
"cdna_start": 1683,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "NM_001127510.3",
"protein_id": "NP_001120982.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "NM_001354895.2",
"protein_id": "NP_001341824.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
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"cdna_start": 1836,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "NM_001407450.1",
"protein_id": "NP_001394379.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "ENST00000509732.6",
"protein_id": "ENSP00000426541.2",
"transcript_support_level": 4,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 10616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1433delT",
"hgvs_p": "p.Leu478fs",
"transcript": "ENST00000512211.7",
"protein_id": "ENSP00000423828.3",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1433,
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"cdna_start": 1784,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1412delT",
"hgvs_p": "p.Leu471fs",
"transcript": "NM_001407451.1",
"protein_id": "NP_001394380.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 2836,
"cds_start": 1412,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 1501,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1403delT",
"hgvs_p": "p.Leu468fs",
"transcript": "NM_001407452.1",
"protein_id": "NP_001394381.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 2833,
"cds_start": 1403,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 11018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1379delT",
"hgvs_p": "p.Leu460fs",
"transcript": "NM_001127511.3",
"protein_id": "NP_001120983.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 2825,
"cds_start": 1379,
"cds_end": null,
"cds_length": 8478,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1379delT",
"hgvs_p": "p.Leu460fs",
"transcript": "ENST00000507379.6",
"protein_id": "ENSP00000423224.2",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
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],
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"splice_score_selected": 0,
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"phylop100way_score": 4.081,
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"acmg_by_gene": [
{
"score": 18,
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"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000257430.9",
"gene_symbol": "APC",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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},
{
"score": 10,
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Familial adenomatous polyposis 1,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}