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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: 12-55693297-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55693297&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55693297,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000257879.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2556G>T",
"hgvs_p": "p.Ser852Ser",
"transcript": "NM_002206.3",
"protein_id": "NP_002197.2",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "ENST00000257879.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2556G>T",
"hgvs_p": "p.Ser852Ser",
"transcript": "ENST00000257879.11",
"protein_id": "ENSP00000257879.7",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "NM_002206.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2568G>T",
"hgvs_p": "p.Ser856Ser",
"transcript": "ENST00000553804.6",
"protein_id": "ENSP00000452120.1",
"transcript_support_level": 1,
"aa_start": 856,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2688G>T",
"hgvs_p": "p.Ser896Ser",
"transcript": "NM_001410977.1",
"protein_id": "NP_001397906.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2688,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2688G>T",
"hgvs_p": "p.Ser896Ser",
"transcript": "ENST00000555728.5",
"protein_id": "ENSP00000452387.1",
"transcript_support_level": 5,
"aa_start": 896,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2688,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2568G>T",
"hgvs_p": "p.Ser856Ser",
"transcript": "NM_001144996.2",
"protein_id": "NP_001138468.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2550G>T",
"hgvs_p": "p.Ser850Ser",
"transcript": "NM_001414029.1",
"protein_id": "NP_001400958.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2538G>T",
"hgvs_p": "p.Ser846Ser",
"transcript": "NM_001374465.1",
"protein_id": "NP_001361394.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2538G>T",
"hgvs_p": "p.Ser846Ser",
"transcript": "ENST00000347027.10",
"protein_id": "ENSP00000343009.6",
"transcript_support_level": 5,
"aa_start": 846,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2568G>T",
"hgvs_p": "p.Ser856Ser",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 856,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2568G>T",
"hgvs_p": "p.Ser856Ser",
"transcript": "ENST00000691973.1",
"protein_id": "ENSP00000509141.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2481G>T",
"hgvs_p": "p.Ser827Ser",
"transcript": "NM_001414030.1",
"protein_id": "NP_001400959.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2469G>T",
"hgvs_p": "p.Ser823Ser",
"transcript": "NM_001414031.1",
"protein_id": "NP_001400960.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2436G>T",
"hgvs_p": "p.Ser812Ser",
"transcript": "NM_001414032.1",
"protein_id": "NP_001400961.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2373G>T",
"hgvs_p": "p.Ser791Ser",
"transcript": "NM_001414033.1",
"protein_id": "NP_001400962.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2373,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2331G>T",
"hgvs_p": "p.Ser777Ser",
"transcript": "NM_001414034.1",
"protein_id": "NP_001400963.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2331,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2277G>T",
"hgvs_p": "p.Ser759Ser",
"transcript": "NM_001144997.2",
"protein_id": "NP_001138469.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2277,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2277G>T",
"hgvs_p": "p.Ser759Ser",
"transcript": "ENST00000452168.6",
"protein_id": "ENSP00000393844.2",
"transcript_support_level": 2,
"aa_start": 759,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2277,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2229G>T",
"hgvs_p": "p.Ser743Ser",
"transcript": "NM_001367993.1",
"protein_id": "NP_001354922.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2229,
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"cdna_start": 2586,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2217G>T",
"hgvs_p": "p.Ser739Ser",
"transcript": "NM_001414035.1",
"protein_id": "NP_001400964.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2082G>T",
"hgvs_p": "p.Ser694Ser",
"transcript": "ENST00000557257.2",
"protein_id": "ENSP00000450578.2",
"transcript_support_level": 4,
"aa_start": 694,
"aa_end": null,
"aa_length": 979,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1212G>T",
"hgvs_p": "p.Ser404Ser",
"transcript": "NM_001367994.1",
"protein_id": "NP_001354923.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 689,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*1008G>T",
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"transcript": "ENST00000691846.1",
"protein_id": "ENSP00000508870.1",
"transcript_support_level": null,
"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": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"dbsnp": "rs138301131",
"frequency_reference_population": 0.0000066000503,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000660005,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.598,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000257879.11",
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2556G>T",
"hgvs_p": "p.Ser852Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}