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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: 7-7228800-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=7228800&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C1GALT1",
"hgnc_id": 24337,
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_020156.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 82993,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9900000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020156.5",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000436587.7",
"protein_coding": true,
"protein_id": "NP_064541.1",
"strand": true,
"transcript": "NM_020156.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436587.7",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020156.5",
"protein_coding": true,
"protein_id": "ENSP00000389176.2",
"strand": true,
"transcript": "ENST00000436587.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000476068.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "n.192-5503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476068.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6529,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910742.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580801.1",
"strand": true,
"transcript": "ENST00000910742.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910743.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580802.1",
"strand": true,
"transcript": "ENST00000910743.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910744.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580803.1",
"strand": true,
"transcript": "ENST00000910744.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910745.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580804.1",
"strand": true,
"transcript": "ENST00000910745.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910746.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580805.1",
"strand": true,
"transcript": "ENST00000910746.1",
"transcript_support_level": null
},
{
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"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910747.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580806.1",
"strand": true,
"transcript": "ENST00000910747.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910748.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580807.1",
"strand": true,
"transcript": "ENST00000910748.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910749.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580808.1",
"strand": true,
"transcript": "ENST00000910749.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000910750.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580809.1",
"strand": true,
"transcript": "ENST00000910750.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000910751.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580810.1",
"strand": true,
"transcript": "ENST00000910751.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000910752.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580811.1",
"strand": true,
"transcript": "ENST00000910752.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000910753.1",
"gene_hgnc_id": 24337,
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"hgvs_c": "c.-17-5503C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580812.1",
"strand": true,
"transcript": "ENST00000910753.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000910754.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580813.1",
"strand": true,
"transcript": "ENST00000910754.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000910755.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
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"protein_coding": true,
"protein_id": "ENSP00000580814.1",
"strand": true,
"transcript": "ENST00000910755.1",
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},
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"consequences": [
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],
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"feature": "ENST00000910756.1",
"gene_hgnc_id": 24337,
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"strand": true,
"transcript": "ENST00000910756.1",
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},
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],
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"feature": "ENST00000910757.1",
"gene_hgnc_id": 24337,
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"strand": true,
"transcript": "ENST00000910757.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000910758.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580817.1",
"strand": true,
"transcript": "ENST00000910758.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910759.1",
"gene_hgnc_id": 24337,
"gene_symbol": "C1GALT1",
"hgvs_c": "c.-17-5503C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580818.1",
"strand": true,
"transcript": "ENST00000910759.1",
"transcript_support_level": null
},
{
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