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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: 1-54243284-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54243284&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54243284,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145716.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Met223Val",
"transcript": "NM_145716.4",
"protein_id": "NP_663768.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 388,
"cds_start": 667,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610401.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145716.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Met223Val",
"transcript": "ENST00000610401.6",
"protein_id": "ENSP00000479674.2",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 388,
"cds_start": 667,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610401.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Met203Val",
"transcript": "ENST00000357475.9",
"protein_id": "ENSP00000350067.4",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 368,
"cds_start": 607,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357475.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "n.859A>G",
"hgvs_p": null,
"transcript": "ENST00000371320.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000371320.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "NM_001394360.1",
"protein_id": "NP_001381289.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 610,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394360.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Met204Val",
"transcript": "ENST00000909145.1",
"protein_id": "ENSP00000579204.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 369,
"cds_start": 610,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909145.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Met203Val",
"transcript": "NM_018070.5",
"protein_id": "NP_060540.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 368,
"cds_start": 607,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018070.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Met196Val",
"transcript": "NM_001009955.4",
"protein_id": "NP_001009955.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 361,
"cds_start": 586,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009955.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Met196Val",
"transcript": "ENST00000371319.8",
"protein_id": "ENSP00000360370.3",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 361,
"cds_start": 586,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371319.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Met183Val",
"transcript": "NM_001394361.1",
"protein_id": "NP_001381290.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 348,
"cds_start": 547,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394361.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "NM_001394362.1",
"protein_id": "NP_001381291.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 341,
"cds_start": 526,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394362.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000909144.1",
"protein_id": "ENSP00000579203.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 341,
"cds_start": 526,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909144.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Met176Val",
"transcript": "ENST00000936592.1",
"protein_id": "ENSP00000606651.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 340,
"cds_start": 526,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936592.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.382A>G",
"hgvs_p": "p.Met128Val",
"transcript": "ENST00000936591.1",
"protein_id": "ENSP00000606650.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 293,
"cds_start": 382,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936591.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Met113Val",
"transcript": "NM_001394364.1",
"protein_id": "NP_001381293.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 278,
"cds_start": 337,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394364.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Met113Val",
"transcript": "ENST00000417664.7",
"protein_id": "ENSP00000414361.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 278,
"cds_start": 337,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417664.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Met86Val",
"transcript": "NM_001394365.1",
"protein_id": "NP_001381294.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 251,
"cds_start": 256,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394365.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Met86Val",
"transcript": "NM_001394366.1",
"protein_id": "NP_001381295.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 251,
"cds_start": 256,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394366.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Met86Val",
"transcript": "NM_001394367.1",
"protein_id": "NP_001381296.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 239,
"cds_start": 256,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394367.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.160A>G",
"hgvs_p": "p.Met54Val",
"transcript": "ENST00000444533.5",
"protein_id": "ENSP00000405880.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 156,
"cds_start": 160,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444533.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Met86Val",
"transcript": "ENST00000525990.1",
"protein_id": "ENSP00000431654.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 100,
"cds_start": 256,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525990.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Met113Val",
"transcript": "XM_017000897.3",
"protein_id": "XP_016856386.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 278,
"cds_start": 337,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000897.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"bayesdelnoaf_score": 0.15,
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_145716.4",
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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
}