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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55693297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55693297,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001410977.1",
"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>A",
"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": "protein_coding",
"feature": "NM_002206.3"
},
{
"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>A",
"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": "protein_coding",
"feature": "ENST00000257879.11"
},
{
"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>A",
"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": "protein_coding",
"feature": "ENST00000553804.6"
},
{
"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>A",
"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": "protein_coding",
"feature": "NM_001410977.1"
},
{
"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>A",
"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": "protein_coding",
"feature": "ENST00000555728.5"
},
{
"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.2670G>A",
"hgvs_p": "p.Ser890Ser",
"transcript": "ENST00000888141.1",
"protein_id": "ENSP00000558199.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2670,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888141.1"
},
{
"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.2655G>A",
"hgvs_p": "p.Ser885Ser",
"transcript": "ENST00000888137.1",
"protein_id": "ENSP00000558196.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2655,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888137.1"
},
{
"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.2589G>A",
"hgvs_p": "p.Ser863Ser",
"transcript": "ENST00000888151.1",
"protein_id": "ENSP00000558210.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2589,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888151.1"
},
{
"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>A",
"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": "protein_coding",
"feature": "NM_001144996.2"
},
{
"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>A",
"hgvs_p": "p.Ser856Ser",
"transcript": "ENST00000888150.1",
"protein_id": "ENSP00000558209.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2568,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888150.1"
},
{
"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>A",
"hgvs_p": "p.Ser852Ser",
"transcript": "ENST00000945417.1",
"protein_id": "ENSP00000615476.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945417.1"
},
{
"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>A",
"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": "protein_coding",
"feature": "NM_001414029.1"
},
{
"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>A",
"hgvs_p": "p.Ser850Ser",
"transcript": "ENST00000888129.1",
"protein_id": "ENSP00000558189.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888129.1"
},
{
"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.2544G>A",
"hgvs_p": "p.Ser848Ser",
"transcript": "ENST00000888135.1",
"protein_id": "ENSP00000558193.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888135.1"
},
{
"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>A",
"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": "protein_coding",
"feature": "NM_001374465.1"
},
{
"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>A",
"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": "protein_coding",
"feature": "ENST00000347027.10"
},
{
"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.2535G>A",
"hgvs_p": "p.Ser845Ser",
"transcript": "ENST00000888145.1",
"protein_id": "ENSP00000558204.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2535,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888145.1"
},
{
"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.2532G>A",
"hgvs_p": "p.Ser844Ser",
"transcript": "ENST00000945420.1",
"protein_id": "ENSP00000615479.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2532,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945420.1"
},
{
"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.2529G>A",
"hgvs_p": "p.Ser843Ser",
"transcript": "ENST00000945415.1",
"protein_id": "ENSP00000615474.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2529,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 2750,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945415.1"
},
{
"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.2526G>A",
"hgvs_p": "p.Ser842Ser",
"transcript": "ENST00000912204.1",
"protein_id": "ENSP00000582263.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912204.1"
},
{
"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.2523G>A",
"hgvs_p": "p.Ser841Ser",
"transcript": "ENST00000888152.1",
"protein_id": "ENSP00000558211.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888152.1"
},
{
"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>A",
"hgvs_p": "p.Ser856Ser",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 856,
"aa_end": null,
"aa_length": 1122,
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],
"gene_symbol": "ITGA7",
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"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.598,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001410977.1",
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2688G>A",
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}
],
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Congenital muscular dystrophy due to integrin alpha-7 deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}