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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: 12-55697011-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55697011&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55697011,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000257879.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "NM_002206.3",
"protein_id": "NP_002197.2",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1625,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "ENST00000257879.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "ENST00000257879.11",
"protein_id": "ENSP00000257879.7",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1625,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "NM_002206.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1637G>T",
"hgvs_p": "p.Arg546Leu",
"transcript": "ENST00000553804.6",
"protein_id": "ENSP00000452120.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1637,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1757G>T",
"hgvs_p": "p.Arg586Leu",
"transcript": "NM_001410977.1",
"protein_id": "NP_001397906.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1757G>T",
"hgvs_p": "p.Arg586Leu",
"transcript": "ENST00000555728.5",
"protein_id": "ENSP00000452387.1",
"transcript_support_level": 5,
"aa_start": 586,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1637G>T",
"hgvs_p": "p.Arg546Leu",
"transcript": "NM_001144996.2",
"protein_id": "NP_001138468.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1637,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1619G>T",
"hgvs_p": "p.Arg540Leu",
"transcript": "NM_001414029.1",
"protein_id": "NP_001400958.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1619,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1607G>T",
"hgvs_p": "p.Arg536Leu",
"transcript": "NM_001374465.1",
"protein_id": "NP_001361394.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1607,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1607G>T",
"hgvs_p": "p.Arg536Leu",
"transcript": "ENST00000347027.10",
"protein_id": "ENSP00000343009.6",
"transcript_support_level": 5,
"aa_start": 536,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1607,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1637G>T",
"hgvs_p": "p.Arg546Leu",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1637,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1637G>T",
"hgvs_p": "p.Arg546Leu",
"transcript": "ENST00000691973.1",
"protein_id": "ENSP00000509141.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1637,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1550G>T",
"hgvs_p": "p.Arg517Leu",
"transcript": "NM_001414030.1",
"protein_id": "NP_001400959.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1550,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1538G>T",
"hgvs_p": "p.Arg513Leu",
"transcript": "NM_001414031.1",
"protein_id": "NP_001400960.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1538,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1505G>T",
"hgvs_p": "p.Arg502Leu",
"transcript": "NM_001414032.1",
"protein_id": "NP_001400961.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1505,
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"cds_length": 3294,
"cdna_start": 1727,
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"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1442G>T",
"hgvs_p": "p.Arg481Leu",
"transcript": "NM_001414033.1",
"protein_id": "NP_001400962.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1442,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "NM_001414034.1",
"protein_id": "NP_001400963.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
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"cds_start": 1625,
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"cdna_start": 1847,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"transcript": "NM_001144997.2",
"protein_id": "NP_001138469.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1346,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Arg449Leu",
"transcript": "ENST00000452168.6",
"protein_id": "ENSP00000393844.2",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1346,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1298G>T",
"hgvs_p": "p.Arg433Leu",
"transcript": "NM_001367993.1",
"protein_id": "NP_001354922.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 1028,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1286G>T",
"hgvs_p": "p.Arg429Leu",
"transcript": "NM_001414035.1",
"protein_id": "NP_001400964.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1286,
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"cdna_start": 1599,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "ENST00000557257.2",
"protein_id": "ENSP00000450578.2",
"transcript_support_level": 4,
"aa_start": 384,
"aa_end": null,
"aa_length": 979,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.281G>T",
"hgvs_p": "p.Arg94Leu",
"transcript": "NM_001367994.1",
"protein_id": "NP_001354923.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 689,
"cds_start": 281,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
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"phylop100way_score": 6.822,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000257879.11",
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}