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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: 1-85745506-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=85745506&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 85745506,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152890.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu",
"transcript": "NM_152890.7",
"protein_id": "NP_690850.2",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370571.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152890.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu",
"transcript": "ENST00000370571.7",
"protein_id": "ENSP00000359603.2",
"transcript_support_level": 1,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152890.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370571.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.2338A>G",
"hgvs_p": "p.Lys780Glu",
"transcript": "NM_001349955.1",
"protein_id": "NP_001336884.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2338,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349955.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4483A>G",
"hgvs_p": "p.Lys1495Glu",
"transcript": "XM_017000924.3",
"protein_id": "XP_016856413.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4483,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000924.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4483A>G",
"hgvs_p": "p.Lys1495Glu",
"transcript": "XM_017000925.3",
"protein_id": "XP_016856414.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1729,
"cds_start": 4483,
"cds_end": null,
"cds_length": 5190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000925.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4483A>G",
"hgvs_p": "p.Lys1495Glu",
"transcript": "XM_017000926.2",
"protein_id": "XP_016856415.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4483,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000926.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu",
"transcript": "XM_047417001.1",
"protein_id": "XP_047272957.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417001.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu",
"transcript": "XM_047417004.1",
"protein_id": "XP_047272960.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417004.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu",
"transcript": "XM_047417005.1",
"protein_id": "XP_047272961.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417005.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4429A>G",
"hgvs_p": "p.Lys1477Glu",
"transcript": "XM_017000927.2",
"protein_id": "XP_016856416.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4429,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000927.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4384A>G",
"hgvs_p": "p.Lys1462Glu",
"transcript": "XM_047417015.1",
"protein_id": "XP_047272971.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4384,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417015.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.4330A>G",
"hgvs_p": "p.Lys1444Glu",
"transcript": "XM_047417016.1",
"protein_id": "XP_047272972.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4330,
"cds_end": null,
"cds_length": 5037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417016.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Lys738Glu",
"transcript": "XM_017000928.3",
"protein_id": "XP_016856417.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 972,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000928.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Lys723Glu",
"transcript": "XM_017000929.3",
"protein_id": "XP_016856418.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 957,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000929.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.*1825A>G",
"hgvs_p": null,
"transcript": "ENST00000426639.5",
"protein_id": "ENSP00000409515.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426639.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4587A>G",
"hgvs_p": null,
"transcript": "NR_146340.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146340.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4828A>G",
"hgvs_p": null,
"transcript": "NR_146341.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146341.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4935A>G",
"hgvs_p": null,
"transcript": "NR_146342.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146342.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4485A>G",
"hgvs_p": null,
"transcript": "NR_146343.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4525A>G",
"hgvs_p": null,
"transcript": "NR_146344.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.4599A>G",
"hgvs_p": null,
"transcript": "NR_146345.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"hgvs_c": "n.*1825A>G",
"hgvs_p": null,
"transcript": "ENST00000426639.5",
"protein_id": "ENSP00000409515.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426639.5"
}
],
"gene_symbol": "COL24A1",
"gene_hgnc_id": 20821,
"dbsnp": "rs769517118",
"frequency_reference_population": 0.0000048049005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000048049,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3390117287635803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.035999998450279236,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1639,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.932,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000613996296367794,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152890.7",
"gene_symbol": "COL24A1",
"hgnc_id": 20821,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.4438A>G",
"hgvs_p": "p.Lys1480Glu"
}
],
"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
}