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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: 7-30497200-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30497200&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGCT",
"hgnc_id": 21705,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001199815.2",
"verdict": "Benign"
},
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000281039",
"hgnc_id": null,
"hgvs_c": "c.204G>A",
"hgvs_p": "p.Pro68Pro",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -17,
"transcript": "ENST00000598361.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 1283,
"alphamissense_prediction": null,
"alphamissense_score": 0.0663,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0024662911891937256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 114,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 455,
"cds_end": null,
"cds_length": 345,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000005374.10",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000005374.6",
"strand": false,
"transcript": "ENST00000005374.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 579,
"cds_end": null,
"cds_length": 567,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024051.4",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Pro153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275428.9",
"protein_coding": true,
"protein_id": "NP_076956.1",
"strand": false,
"transcript": "NM_024051.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 579,
"cds_end": null,
"cds_length": 567,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000275428.9",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Pro153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024051.4",
"protein_coding": true,
"protein_id": "ENSP00000275428.4",
"strand": false,
"transcript": "ENST00000275428.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 103,
"aa_ref": "P",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": 564,
"cds_end": null,
"cds_length": 312,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000598361.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000281039",
"hgvs_c": "c.204G>A",
"hgvs_p": "p.Pro68Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470615.1",
"strand": false,
"transcript": "ENST00000598361.4",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 166,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 599,
"cds_end": null,
"cds_length": 501,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199815.2",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186744.1",
"strand": false,
"transcript": "NM_001199815.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 166,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 767,
"cdna_start": 569,
"cds_end": null,
"cds_length": 501,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409390.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387235.1",
"strand": false,
"transcript": "ENST00000409390.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 114,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1022,
"cdna_start": 443,
"cds_end": null,
"cds_length": 345,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199816.2",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186745.1",
"strand": false,
"transcript": "NM_001199816.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 185,
"aa_ref": "P",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 591,
"cds_end": null,
"cds_length": 558,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912164.1",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Pro150Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582223.1",
"strand": false,
"transcript": "ENST00000912164.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 139,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1022,
"cdna_start": 442,
"cds_end": null,
"cds_length": 420,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000912165.1",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Pro104Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582224.1",
"strand": false,
"transcript": "ENST00000912165.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 94,
"aa_ref": "P",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 297,
"cds_end": null,
"cds_length": 285,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001199817.2",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Pro59Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186746.1",
"strand": false,
"transcript": "NM_001199817.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 94,
"aa_ref": "P",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 269,
"cds_end": null,
"cds_length": 285,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000409144.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Pro59Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386610.1",
"strand": false,
"transcript": "ENST00000409144.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000426081.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*114G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390094.1",
"strand": false,
"transcript": "ENST00000426081.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440082.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408015.1",
"strand": false,
"transcript": "ENST00000440082.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447901.1",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*313G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387809.1",
"strand": false,
"transcript": "ENST00000447901.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_037669.2",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_037669.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000426081.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*114G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390094.1",
"strand": false,
"transcript": "ENST00000426081.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440082.5",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408015.1",
"strand": false,
"transcript": "ENST00000440082.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447901.1",
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"hgvs_c": "n.*313G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387809.1",
"strand": false,
"transcript": "ENST00000447901.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs115910467",
"effect": "missense_variant",
"frequency_reference_population": 0.0007964976,
"gene_hgnc_id": 21705,
"gene_symbol": "GGCT",
"gnomad_exomes_ac": 817,
"gnomad_exomes_af": 0.000560136,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_ac": 466,
"gnomad_genomes_af": 0.0030612,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 4,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.421,
"pos": 30497200,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.153,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001199815.2"
}
]
}