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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: 12-30630896-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30630896&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 30630896,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006390.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3078C>G",
"hgvs_p": "p.Ser1026Ser",
"transcript": "NM_006390.4",
"protein_id": "NP_006381.2",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": "ENST00000256079.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006390.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3078C>G",
"hgvs_p": "p.Ser1026Ser",
"transcript": "ENST00000256079.9",
"protein_id": "ENSP00000256079.4",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": "NM_006390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256079.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3174C>G",
"hgvs_p": "p.Ser1058Ser",
"transcript": "ENST00000910950.1",
"protein_id": "ENSP00000581009.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910950.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3171C>G",
"hgvs_p": "p.Ser1057Ser",
"transcript": "ENST00000910953.1",
"protein_id": "ENSP00000581012.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3403,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910953.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3126C>G",
"hgvs_p": "p.Ser1042Ser",
"transcript": "ENST00000936164.1",
"protein_id": "ENSP00000606223.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3126,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936164.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3075C>G",
"hgvs_p": "p.Ser1025Ser",
"transcript": "ENST00000910949.1",
"protein_id": "ENSP00000581008.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3075,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910949.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3069C>G",
"hgvs_p": "p.Ser1023Ser",
"transcript": "ENST00000936167.1",
"protein_id": "ENSP00000606226.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936167.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2994C>G",
"hgvs_p": "p.Ser998Ser",
"transcript": "ENST00000910951.1",
"protein_id": "ENSP00000581010.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910951.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2943C>G",
"hgvs_p": "p.Ser981Ser",
"transcript": "ENST00000936165.1",
"protein_id": "ENSP00000606224.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 992,
"cds_start": 2943,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936165.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2919C>G",
"hgvs_p": "p.Ser973Ser",
"transcript": "ENST00000910952.1",
"protein_id": "ENSP00000581011.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 984,
"cds_start": 2919,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910952.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2898C>G",
"hgvs_p": "p.Ser966Ser",
"transcript": "ENST00000910956.1",
"protein_id": "ENSP00000581015.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 977,
"cds_start": 2898,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910956.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2874C>G",
"hgvs_p": "p.Ser958Ser",
"transcript": "ENST00000910954.1",
"protein_id": "ENSP00000581013.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 969,
"cds_start": 2874,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910954.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2835C>G",
"hgvs_p": "p.Ser945Ser",
"transcript": "ENST00000910955.1",
"protein_id": "ENSP00000581014.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 956,
"cds_start": 2835,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910955.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2463C>G",
"hgvs_p": "p.Ser821Ser",
"transcript": "NM_001190995.2",
"protein_id": "NP_001177924.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 832,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190995.2"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2463C>G",
"hgvs_p": "p.Ser821Ser",
"transcript": "ENST00000544829.5",
"protein_id": "ENSP00000444520.1",
"transcript_support_level": 2,
"aa_start": 821,
"aa_end": null,
"aa_length": 832,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544829.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.1224C>G",
"hgvs_p": "p.Ser408Ser",
"transcript": "ENST00000936166.1",
"protein_id": "ENSP00000606225.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 419,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936166.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3027C>G",
"hgvs_p": "p.Ser1009Ser",
"transcript": "XM_017018691.3",
"protein_id": "XP_016874180.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1020,
"cds_start": 3027,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018691.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2892C>G",
"hgvs_p": "p.Ser964Ser",
"transcript": "XM_017018692.2",
"protein_id": "XP_016874181.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 975,
"cds_start": 2892,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018692.2"
}
],
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"dbsnp": "rs377717299",
"frequency_reference_population": 0.0000012394937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84273e-7,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.735,
"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": "NM_006390.4",
"gene_symbol": "IPO8",
"hgnc_id": 9853,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3078C>G",
"hgvs_p": "p.Ser1026Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}