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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: 3-55992067-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55992067&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 55992067,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288221.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "NM_015576.3",
"protein_id": "NP_056391.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 957,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": "ENST00000288221.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "ENST00000288221.11",
"protein_id": "ENSP00000288221.6",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 957,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": "NM_015576.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.2245G>A",
"hgvs_p": null,
"transcript": "ENST00000460849.5",
"protein_id": "ENSP00000417445.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "ENST00000492584.3",
"protein_id": "ENSP00000417280.3",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 965,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Glu783Lys",
"transcript": "XM_047447941.1",
"protein_id": "XP_047303897.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2347,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_017006141.2",
"protein_id": "XP_016861630.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 986,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2287G>A",
"hgvs_p": "p.Glu763Lys",
"transcript": "XM_047447942.1",
"protein_id": "XP_047303898.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 984,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_047447943.1",
"protein_id": "XP_047303899.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 982,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_017006142.2",
"protein_id": "XP_016861631.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 979,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2287G>A",
"hgvs_p": "p.Glu763Lys",
"transcript": "XM_047447944.1",
"protein_id": "XP_047303900.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 977,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2287G>A",
"hgvs_p": "p.Glu763Lys",
"transcript": "XM_047447945.1",
"protein_id": "XP_047303901.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 977,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 6419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_047447946.1",
"protein_id": "XP_047303902.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 975,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_047447947.1",
"protein_id": "XP_047303903.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 975,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_017006146.2",
"protein_id": "XP_016861635.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 974,
"cds_start": 2245,
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"cds_length": 2925,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_017006148.2",
"protein_id": "XP_016861637.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 970,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_047447948.1",
"protein_id": "XP_047303904.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 970,
"cds_start": 2245,
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"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_017006151.2",
"protein_id": "XP_016861640.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 967,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "XM_047447949.1",
"protein_id": "XP_047303905.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 965,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_017006156.2",
"protein_id": "XP_016861645.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 963,
"cds_start": 2245,
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"cdna_start": 2605,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_047447950.1",
"protein_id": "XP_047303906.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 963,
"cds_start": 2245,
"cds_end": null,
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"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_047447951.1",
"protein_id": "XP_047303907.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 953,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys",
"transcript": "XM_047447952.1",
"protein_id": "XP_047303908.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 953,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "n.2605G>A",
"hgvs_p": null,
"transcript": "NR_132749.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"hgvs_c": "c.2061+15114G>A",
"hgvs_p": null,
"transcript": "XM_047447953.1",
"protein_id": "XP_047303909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERC2",
"gene_hgnc_id": 31922,
"dbsnp": null,
"frequency_reference_population": 6.8451703e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84517e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.791934072971344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000288221.11",
"gene_symbol": "ERC2",
"hgnc_id": 31922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Glu749Lys"
}
],
"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
}