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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: 6-30891069-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30891069&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30891069,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_013994.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001297654.2",
"protein_id": "NP_001284583.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": "ENST00000376568.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297654.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000376568.8",
"protein_id": "ENSP00000365752.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": "NM_001297654.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376568.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000452441.5",
"protein_id": "ENSP00000405039.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452441.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000376567.6",
"protein_id": "ENSP00000365751.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 876,
"cds_start": 514,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376567.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000376570.8",
"protein_id": "ENSP00000365754.4",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 876,
"cds_start": 514,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376570.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000376575.7",
"protein_id": "ENSP00000365759.4",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 243,
"cds_start": 514,
"cds_end": null,
"cds_length": 732,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376575.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000908941.1",
"protein_id": "ENSP00000579000.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 943,
"cds_start": 514,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908941.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000956426.1",
"protein_id": "ENSP00000626485.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 921,
"cds_start": 514,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956426.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000956424.1",
"protein_id": "ENSP00000626483.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 920,
"cds_start": 514,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956424.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387892.1",
"protein_id": "NP_001374821.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 919,
"cds_start": 514,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387892.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_013994.3",
"protein_id": "NP_054700.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 919,
"cds_start": 514,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013994.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "ENST00000513240.5",
"protein_id": "ENSP00000427552.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 919,
"cds_start": 514,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513240.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387893.1",
"protein_id": "NP_001374822.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387893.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387894.1",
"protein_id": "NP_001374823.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387894.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387895.1",
"protein_id": "NP_001374824.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387895.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387896.1",
"protein_id": "NP_001374825.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387896.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387897.1",
"protein_id": "NP_001374826.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387897.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387898.1",
"protein_id": "NP_001374827.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387898.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387899.1",
"protein_id": "NP_001374828.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387899.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387900.1",
"protein_id": "NP_001374829.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387900.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387901.1",
"protein_id": "NP_001374830.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387901.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg",
"transcript": "NM_001387902.1",
"protein_id": "NP_001374831.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 913,
"cds_start": 514,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 3879,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 22,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1095"
}
],
"gene_symbol": "DDR1",
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"dbsnp": "rs141547665",
"frequency_reference_population": 0.0000030999563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000136918,
"gnomad_genomes_af": 0.0000197109,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05400000140070915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.413,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_013994.3",
"gene_symbol": "DDR1",
"hgnc_id": 2730,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.514C>A",
"hgvs_p": "p.Arg172Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_039783.1",
"gene_symbol": "MIR4640",
"hgnc_id": 41561,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*97C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}