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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: 9-131588026-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131588026&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131588026,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000372189.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Arg1018Ser",
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3054G>T",
"hgvs_p": "p.Arg1018Ser",
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2550G>T",
"hgvs_p": "p.Arg850Ser",
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2547G>T",
"hgvs_p": "p.Arg849Ser",
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2496G>T",
"hgvs_p": "p.Arg832Ser",
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": 832,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2496,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2943G>T",
"hgvs_p": "p.Arg981Ser",
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2943,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2550G>T",
"hgvs_p": "p.Arg850Ser",
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2547G>T",
"hgvs_p": "p.Arg849Ser",
"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2496G>T",
"hgvs_p": "p.Arg832Ser",
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2496,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2493G>T",
"hgvs_p": "p.Arg831Ser",
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2493,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2433G>T",
"hgvs_p": "p.Arg811Ser",
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.777G>T",
"hgvs_p": "p.Arg259Ser",
"transcript": "ENST00000414781.1",
"protein_id": "ENSP00000407210.1",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 317,
"cds_start": 777,
"cds_end": null,
"cds_length": 956,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3084G>T",
"hgvs_p": "p.Arg1028Ser",
"transcript": "XM_011518571.3",
"protein_id": "XP_011516873.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3081G>T",
"hgvs_p": "p.Arg1027Ser",
"transcript": "XM_011518572.3",
"protein_id": "XP_011516874.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3081,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3075G>T",
"hgvs_p": "p.Arg1025Ser",
"transcript": "XM_006717067.4",
"protein_id": "XP_006717130.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3075,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3057G>T",
"hgvs_p": "p.Arg1019Ser",
"transcript": "XM_005272186.5",
"protein_id": "XP_005272243.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3057,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3006G>T",
"hgvs_p": "p.Arg1002Ser",
"transcript": "XM_017014633.2",
"protein_id": "XP_016870122.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3006,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2988G>T",
"hgvs_p": "p.Arg996Ser",
"transcript": "XM_017014635.3",
"protein_id": "XP_016870124.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2988,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2964G>T",
"hgvs_p": "p.Arg988Ser",
"transcript": "XM_017014636.3",
"protein_id": "XP_016870125.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2964,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Arg987Ser",
"transcript": "XM_006717072.4",
"protein_id": "XP_006717135.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2961,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2946G>T",
"hgvs_p": "p.Arg982Ser",
"transcript": "XM_047423251.1",
"protein_id": "XP_047279207.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 3105,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2892G>T",
"hgvs_p": "p.Arg964Ser",
"transcript": "XM_047423252.1",
"protein_id": "XP_047279208.1",
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"aa_start": 964,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}