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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: 2-99403751-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99403751&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 99403751,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321454.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3110A>G",
"hgvs_p": "p.Asp1037Gly",
"transcript": "NM_016316.4",
"protein_id": "NP_057400.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": "ENST00000258428.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016316.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3110A>G",
"hgvs_p": "p.Asp1037Gly",
"transcript": "ENST00000258428.8",
"protein_id": "ENSP00000258428.3",
"transcript_support_level": 1,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": "NM_016316.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258428.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asp1036Gly",
"transcript": "ENST00000393445.7",
"protein_id": "ENSP00000377091.3",
"transcript_support_level": 1,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393445.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3218A>G",
"hgvs_p": "p.Asp1073Gly",
"transcript": "NM_001321454.2",
"protein_id": "NP_001308383.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321454.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3218A>G",
"hgvs_p": "p.Asp1073Gly",
"transcript": "ENST00000879664.1",
"protein_id": "ENSP00000549723.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879664.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3215A>G",
"hgvs_p": "p.Asp1072Gly",
"transcript": "ENST00000879665.1",
"protein_id": "ENSP00000549724.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3215,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879665.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3110A>G",
"hgvs_p": "p.Asp1037Gly",
"transcript": "ENST00000879663.1",
"protein_id": "ENSP00000549722.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3235,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879663.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3110A>G",
"hgvs_p": "p.Asp1037Gly",
"transcript": "ENST00000920279.1",
"protein_id": "ENSP00000590338.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920279.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asp1036Gly",
"transcript": "NM_001037872.3",
"protein_id": "NP_001032961.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037872.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asp1036Gly",
"transcript": "ENST00000920275.1",
"protein_id": "ENSP00000590334.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920275.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asp1036Gly",
"transcript": "ENST00000949065.1",
"protein_id": "ENSP00000619124.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949065.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3077A>G",
"hgvs_p": "p.Asp1026Gly",
"transcript": "ENST00000920281.1",
"protein_id": "ENSP00000590340.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920281.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2999A>G",
"hgvs_p": "p.Asp1000Gly",
"transcript": "ENST00000920280.1",
"protein_id": "ENSP00000590339.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2999,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920280.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2954A>G",
"hgvs_p": "p.Asp985Gly",
"transcript": "ENST00000879666.1",
"protein_id": "ENSP00000549725.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2954,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879666.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2897A>G",
"hgvs_p": "p.Asp966Gly",
"transcript": "NM_001321455.2",
"protein_id": "NP_001308384.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321455.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2882A>G",
"hgvs_p": "p.Asp961Gly",
"transcript": "ENST00000949066.1",
"protein_id": "ENSP00000619125.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2882,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949066.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2729A>G",
"hgvs_p": "p.Asp910Gly",
"transcript": "ENST00000920278.1",
"protein_id": "ENSP00000590337.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2729,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920278.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Asp692Gly",
"transcript": "ENST00000920276.1",
"protein_id": "ENSP00000590335.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 906,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2762,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920276.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2075A>G",
"hgvs_p": "p.Asp692Gly",
"transcript": "ENST00000949067.1",
"protein_id": "ENSP00000619126.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 906,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949067.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Asp656Gly",
"transcript": "ENST00000920277.1",
"protein_id": "ENSP00000590336.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 870,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920277.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1640A>G",
"hgvs_p": "p.Asp547Gly",
"transcript": "NM_001321458.2",
"protein_id": "NP_001308387.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 761,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321458.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asp514Gly",
"transcript": "NM_001321459.2",
"protein_id": "NP_001308388.1",
"transcript_support_level": null,
"aa_start": 514,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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"consequences": [
"intron_variant"
],
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"biotype": "pseudogene",
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],
"gene_symbol": "REV1",
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"dbsnp": "rs1559276616",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1510075032711029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.49,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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_001321454.2",
"gene_symbol": "REV1",
"hgnc_id": 14060,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3218A>G",
"hgvs_p": "p.Asp1073Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}