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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: 3-12600219-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12600219&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAF1",
"hgnc_id": 9829,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001354689.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_score": -8,
"allele_count_reference_population": 1579,
"alphamissense_prediction": null,
"alphamissense_score": 0.0951,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "LEOPARD syndrome 2,Noonan syndrome 5,Noonan syndrome and Noonan-related syndrome,RASopathy,not provided,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:3 B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007906168699264526,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002880.4",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251849.9",
"protein_coding": true,
"protein_id": "NP_002871.1",
"strand": false,
"transcript": "NM_002880.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000251849.9",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002880.4",
"protein_coding": true,
"protein_id": "ENSP00000251849.4",
"strand": false,
"transcript": "ENST00000251849.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 2007,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001354689.3",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341618.1",
"strand": false,
"transcript": "NM_001354689.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 2007,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000442415.7",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401888.2",
"strand": false,
"transcript": "ENST00000442415.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 2007,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900382.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570441.1",
"strand": false,
"transcript": "ENST00000900382.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 2007,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941486.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611545.1",
"strand": false,
"transcript": "ENST00000941486.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001354690.3",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341619.1",
"strand": false,
"transcript": "NM_001354690.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000685653.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509968.1",
"strand": false,
"transcript": "ENST00000685653.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000691899.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508763.1",
"strand": false,
"transcript": "ENST00000691899.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900375.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570434.1",
"strand": false,
"transcript": "ENST00000900375.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900377.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570436.1",
"strand": false,
"transcript": "ENST00000900377.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
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"feature": "ENST00000900381.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570440.1",
"strand": false,
"transcript": "ENST00000900381.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2911,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900383.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570442.1",
"strand": false,
"transcript": "ENST00000900383.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941484.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611543.1",
"strand": false,
"transcript": "ENST00000941484.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941488.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611547.1",
"strand": false,
"transcript": "ENST00000941488.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941490.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611549.1",
"strand": false,
"transcript": "ENST00000941490.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941491.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611550.1",
"strand": false,
"transcript": "ENST00000941491.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941492.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611551.1",
"strand": false,
"transcript": "ENST00000941492.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 648,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941494.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611553.1",
"strand": false,
"transcript": "ENST00000941494.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941495.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611554.1",
"strand": false,
"transcript": "ENST00000941495.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1947,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941496.1",
"gene_hgnc_id": 9829,
"gene_symbol": "RAF1",
"hgvs_c": "c.923C>T",
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