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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: X-53428058-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53428058&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53428058,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031745.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "NM_001031745.5",
"protein_id": "NP_001026915.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375327.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031745.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000375327.6",
"protein_id": "ENSP00000364476.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031745.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375327.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000868183.1",
"protein_id": "ENSP00000538242.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868183.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000929472.1",
"protein_id": "ENSP00000599531.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929472.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000929473.1",
"protein_id": "ENSP00000599532.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929473.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000947944.1",
"protein_id": "ENSP00000618003.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947944.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000868181.1",
"protein_id": "ENSP00000538240.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 309,
"cds_start": 173,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868181.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000929474.1",
"protein_id": "ENSP00000599533.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 309,
"cds_start": 173,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929474.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000947948.1",
"protein_id": "ENSP00000618007.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 309,
"cds_start": 173,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947948.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000868179.1",
"protein_id": "ENSP00000538238.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868179.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000868180.1",
"protein_id": "ENSP00000538239.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868180.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000868182.1",
"protein_id": "ENSP00000538241.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868182.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000947945.1",
"protein_id": "ENSP00000618004.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947945.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000947946.1",
"protein_id": "ENSP00000618005.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947946.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000947947.1",
"protein_id": "ENSP00000618006.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947947.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "NM_001267053.4",
"protein_id": "NP_001253982.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 238,
"cds_start": 173,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267053.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000414955.6",
"protein_id": "ENSP00000401463.2",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 238,
"cds_start": 173,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414955.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "NM_144968.4",
"protein_id": "NP_659405.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 192,
"cds_start": 173,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144968.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000457095.5",
"protein_id": "ENSP00000402080.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 192,
"cds_start": 173,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457095.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "ENST00000329209.9",
"protein_id": "ENSP00000332142.5",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 180,
"cds_start": 173,
"cds_end": null,
"cds_length": 544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329209.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "XM_005261988.5",
"protein_id": "XP_005262045.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 379,
"cds_start": 173,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261988.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val",
"transcript": "XM_005261990.5",
"protein_id": "XP_005262047.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 264,
"cds_start": 173,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261990.5"
}
],
"gene_symbol": "RIBC1",
"gene_hgnc_id": 26537,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08843263983726501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.1017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.816,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031745.5",
"gene_symbol": "RIBC1",
"hgnc_id": 26537,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ala58Val"
}
],
"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
}