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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: 1-151134828-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151134828&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA6C",
"hgnc_id": 10740,
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001178061.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 6417,
"alphamissense_prediction": null,
"alphamissense_score": 0.105,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.001773834228515625,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_030913.6",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368914.8",
"protein_coding": true,
"protein_id": "NP_112175.2",
"strand": false,
"transcript": "NM_030913.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000368914.8",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030913.6",
"protein_coding": true,
"protein_id": "ENSP00000357910.3",
"strand": false,
"transcript": "ENST00000368914.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000368913.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357909.3",
"strand": false,
"transcript": "ENST00000368913.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5262,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000341697.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344148.3",
"strand": false,
"transcript": "ENST00000341697.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000368912.7",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1508G>C",
"hgvs_p": "p.Arg503Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357908.3",
"strand": false,
"transcript": "ENST00000368912.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1763,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967245.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1763G>C",
"hgvs_p": "p.Arg588Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637304.1",
"strand": false,
"transcript": "ENST00000967245.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001178061.3",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171532.1",
"strand": false,
"transcript": "NM_001178061.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866885.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536944.1",
"strand": false,
"transcript": "ENST00000866885.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866869.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536928.1",
"strand": false,
"transcript": "ENST00000866869.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000866870.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536929.1",
"strand": false,
"transcript": "ENST00000866870.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 930,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 1997,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866871.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536930.1",
"strand": false,
"transcript": "ENST00000866871.1",
"transcript_support_level": null
},
{
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"aa_length": 930,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866875.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536934.1",
"strand": false,
"transcript": "ENST00000866875.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866879.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536938.1",
"strand": false,
"transcript": "ENST00000866879.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 3837,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866880.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536939.1",
"strand": false,
"transcript": "ENST00000866880.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866888.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536947.1",
"strand": false,
"transcript": "ENST00000866888.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 930,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1628,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000927933.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597992.1",
"strand": false,
"transcript": "ENST00000927933.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 930,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 2161,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000927935.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597994.1",
"strand": false,
"transcript": "ENST00000927935.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 2034,
"cds_end": null,
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"cds_start": 1628,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967242.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1628G>C",
"hgvs_p": "p.Arg543Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637301.1",
"strand": false,
"transcript": "ENST00000967242.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 2790,
"cds_start": 1625,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000927934.1",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597993.1",
"strand": false,
"transcript": "ENST00000927934.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001178062.3",
"gene_hgnc_id": 10740,
"gene_symbol": "SEMA6C",
"hgvs_c": "c.1508G>C",
"hgvs_p": "p.Arg503Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171533.1",
"strand": false,
"transcript": "NM_001178062.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
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